Gja1 (gap junction protein, alpha 1) - Rat Genome Database
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Gene: Gja1 (gap junction protein, alpha 1) Mus musculus
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Symbol: Gja1
Name: gap junction protein, alpha 1
RGD ID: 10649
MGI Page MGI
Description: Exhibits several functions, including beta-tubulin binding activity; scaffold protein binding activity; and transmembrane transporter activity. Involved in several processes, including animal organ development; regulation of gene expression; and regulation of membrane depolarization. Localizes to several cellular components, including fascia adherens; gap junction; and lateral plasma membrane. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; limb; and sensory organ. Used to study oculodentodigital dysplasia. Human ortholog(s) of this gene implicated in several diseases, including congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; palmoplantar keratoderma and congenital alopecia 1; and syndactyly type 3. Orthologous to human GJA1 (gap junction protein alpha 1); PARTICIPATES IN connexin signaling pathway; N-cadherin signaling pathway; arrhythmogenic right ventricular cardiomyopathy pathway; INTERACTS WITH (R)-lipoic acid; 17alpha-ethynylestradiol; 17beta-estradiol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: alpha 1 connexin; AU042049; AW546267; Cnx4; Cnx43; conne; connexin 43; connexin k1; connexin-43; connexin43; Cx43; Cx43al; Cx43alpha1; Cxnk1; gap junction 43 kDa heart protein; gap junction alpha-1 protein; gap junction membrane channel protein alpha 1; Gja-; Gja-1; Npm1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391056,253,297 - 56,266,519 (+)NCBIGRCm39mm39
GRCm381056,377,300 - 56,390,419 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1056,377,330 - 56,402,513 (+)EnsemblGRCm38mm10GRCm38
MGSCv371056,097,106 - 56,110,225 (+)NCBIGRCm37mm9NCBIm37
MGSCv361056,065,762 - 56,078,833 (+)NCBImm8
Celera1057,194,935 - 57,208,041 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1028.64NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
adenoma  (ISO)
Alopecia Congenita Keratosis Palmoplantaris  (ISO)
amnestic disorder  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (ISO)
atrial fibrillation  (IMP,ISO)
atrioventricular septal defect  (ISO)
Atrioventricular Septal Defect 3  (ISO)
autistic disorder  (ISO)
autoimmune thyroiditis  (ISO)
autosomal recessive craniometaphyseal dysplasia  (ISO)
Basaran Yilmaz Syndrome  (ISO)
borna disease  (ISO)
Brain Injuries  (ISO)
brain ischemia  (ISO)
Breast Neoplasms  (ISO)
Cardiac Arrhythmias  (ISO)
Cardiac Fibrosis  (ISO)
chronic kidney disease  (ISO)
Chylothorax  (IMP)
cleft lip  (ISO)
coronary aneurysm  (ISO)
Diabetic Foot  (ISO)
Diaphragmatic Hernia  (ISO)
dilated cardiomyopathy  (ISO)
Disease Progression  (ISO)
epilepsy  (ISO)
erythrokeratodermia variabilis  (ISO)
erythrokeratodermia variabilis et progressiva 3  (ISO)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (IEP,ISO)
Experimental Liver Cirrhosis  (ISO)
genetic disease  (ISO)
Hearing Loss  (ISO)
Hemorrhagic Shock  (ISO)
hereditary lymphedema IA  (ISO)
Huntington's disease  (ISO)
Hyperalgesia  (ISO)
hypertension  (ISO)
hypoplastic left heart syndrome  (ISO)
Hypoplastic Left Heart Syndrome 1  (ISO)
impotence  (ISO)
intellectual disability  (ISO)
ischemia  (ISO)
Lung Neoplasms  (ISO)
Lymphatic Abnormalities  (IMP)
malignant glioma  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
myocarditis  (ISO)
Neuralgia  (IMP)
Nonsyndromic Sensorineural Hearing Loss  (ISO)
oculodentodigital dysplasia  (IAGP,IEA,IMP,ISO)
Oculodentodigital Dysplasia, Autosomal Recessive  (ISO)
Overactive Urinary Bladder  (ISO)
palmoplantar keratoderma and congenital alopecia 1  (ISO)
palmoplantar keratosis  (ISO)
Parkinsonian Disorders  (ISO)
Prostatic Neoplasms  (ISO)
pulmonary hypertension  (ISO)
renovascular hypertension  (ISO)
Schwartz-Lelek Syndrome  (ISO)
Skin Neoplasms  (ISO)
Spinal Cord Injuries  (ISO)
Sudden Cardiac Death  (IEP)
syndactyly  (ISO)
syndactyly type 3  (ISO)
syndactyly type 5  (ISO)
tetralogy of Fallot  (ISO)
tongue squamous cell carcinoma  (ISO)
transient cerebral ischemia  (IDA,ISO)
type 2 diabetes mellitus  (ISO)
urethral obstruction  (ISO)
visual epilepsy  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-antofine  (ISO)
(R)-lipoic acid  (EXP,ISO)
(S)-colchicine  (ISO)
1,3-dinitrobenzene  (ISO)
1-heptanol  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-O-palmitoyl-2-O-(5-oxovaleryl)-sn-glycero-3-phosphocholine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexabromobiphenyl  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (EXP)
2,6-di-tert-butyl-4-methylphenol  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (EXP,ISO)
3,5-dibromo-4-hydroxybenzonitrile  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-methylcholanthrene  (EXP)
4,4'-diaminodiphenylmethane  (EXP)
4-hydroxyphenyl retinamide  (EXP)
4-tert-Octylphenol  (ISO)
4-vinylcyclohexene dioxide  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (ISO)
5-fluorouracil  (EXP,ISO)
7,12-dimethyltetraphene  (EXP,ISO)
8-Br-cAMP  (ISO)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (ISO)
afimoxifene  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (ISO)
ametryn  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
anastrozole  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
apocynin  (ISO)
Aroclor 1254  (EXP)
arotinoid acid  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
astaxanthin  (EXP)
atenolol  (ISO)
ATP  (ISO)
atrazine  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzoyl peroxide  (EXP)
beta-carotene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
bucladesine  (ISO)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcidiol  (ISO)
calciol  (ISO)
capsanthin  (ISO)
carbendazim  (ISO)
CARBENOXOLONE  (ISO)
carbon nanotube  (EXP)
carvedilol  (ISO)
chaetoglobosin A  (ISO)
chloral hydrate  (ISO)
chloropicrin  (ISO)
chloroprene  (EXP)
chloroquine  (EXP,ISO)
chlorothalonil  (EXP)
choline  (EXP)
chromium atom  (ISO)
cisplatin  (EXP,ISO)
clozapine  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (ISO)
cyclophosphamide  (ISO)
cylindrospermopsin  (ISO)
D-glucose  (EXP,ISO)
DDT  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (EXP,ISO)
diclofenac  (EXP)
dieldrin  (ISO)
diethylstilbestrol  (EXP)
dimethyl sulfoxide  (ISO)
dimethylarsinous acid  (ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
doxycycline  (EXP)
ebselen  (ISO)
endosulfan  (ISO)
ethanol  (EXP)
ethidium  (ISO)
etoposide  (EXP)
ferric oxide  (EXP)
fluoranthene  (EXP)
fluorene  (EXP)
fluoxetine  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fucoxanthin  (ISO)
fulvestrant  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (EXP,ISO)
Gastrodin  (ISO)
genistein  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glutaraldehyde  (ISO)
gossypol  (ISO)
griseofulvin  (ISO)
haloperidol  (ISO)
heptachlor  (ISO)
Heptachlor epoxide  (EXP,ISO)
hydrogen peroxide  (ISO)
hydroxyflutamide  (ISO)
imidacloprid  (ISO)
indoxyl sulfate  (ISO)
ioxynil  (ISO)
iprodione  (ISO)
irinotecan  (ISO)
isocarbophos  (ISO)
isoprenaline  (EXP,ISO)
L-ascorbic acid  (ISO)
L-methionine  (EXP)
lactacystin  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP,ISO)
letrozole  (ISO)
leupeptin  (ISO)
lipoic acid  (EXP,ISO)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium chloride  (ISO)
lithium hydride  (ISO)
losartan  (ISO)
lycopene  (EXP,ISO)
lysophosphatidylcholine  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (ISO)
menadione  (EXP)
mercury dichloride  (ISO)
methoxychlor  (EXP)
methylseleninic acid  (ISO)
metoprolol  (ISO)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (ISO)
nitric oxide  (ISO)
nitrofen  (EXP,ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
oxaliplatin  (ISO)
p-cresol  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP,ISO)
phenobarbital  (EXP)
phenol  (ISO)
phenol red  (ISO)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP)
pregnenolone 16alpha-carbonitrile  (EXP)
progesterone  (ISO)
propranolol  (ISO)
quercetin  (EXP,ISO)
radicicol  (ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
Ro 41-5253  (EXP)
rotenone  (EXP,ISO)
SB 203580  (EXP,ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP)
sodium arsenate  (EXP,ISO)
sodium arsenite  (ISO)
sodium dodecyl sulfate  (ISO)
sodium fluoride  (EXP)
Soman  (ISO)
succimer  (EXP)
sulfur dioxide  (EXP)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP,ISO)
titanium dioxide  (ISO)
tolbutamide  (ISO)
toluene  (ISO)
topotecan  (ISO)
toxaphene  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (ISO)
Triptolide  (EXP)
trovafloxacin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vanadium atom  (ISO)
vanadium(0)  (ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
wortmannin  (ISO)
zardaverine  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult heart development  (IMP)
apoptotic process  (ISO)
ATP transport  (ISO)
atrial ventricular junction remodeling  (IGI)
blood vessel morphogenesis  (IMP)
bone development  (IMP)
bone remodeling  (IMP)
cardiac conduction  (IMP)
cell communication  (ISO)
cell communication by chemical coupling  (IDA)
cell communication by electrical coupling  (IDA,ISO)
cell-cell junction organization  (IMP)
cell-cell signaling  (IBA,IDA,ISO)
cellular protein localization  (ISO)
cellular response to amyloid-beta  (IMP)
cellular response to mechanical stimulus  (ISO)
cellular response to parathyroid hormone stimulus  (ISO)
cellular response to pH  (IDA)
cellular response to platelet-derived growth factor stimulus  (ISO)
chronic inflammatory response  (ISO)
decidualization  (ISO)
embryonic digit morphogenesis  (IMP)
embryonic heart tube development  (IMP)
endothelium development  (ISO)
epicardial cell to mesenchymal cell transition  (TAS)
epididymis development  (ISO)
epithelial cell maturation  (IMP)
establishment of epithelial cell polarity  (TAS)
establishment of mitotic spindle orientation  (ISO)
export across plasma membrane  (IMP)
glutamate secretion  (IMP)
heart development  (IMP)
heart looping  (IMP)
in utero embryonic development  (IMP)
ion transmembrane transport  (ISO)
lens development in camera-type eye  (IMP)
maintenance of protein localization in endoplasmic reticulum  (ISO)
male gonad development  (IMP)
microtubule-based transport  (ISO)
milk ejection reflex  (IMP)
negative regulation of cardiac muscle cell proliferation  (ISO)
negative regulation of cell growth  (IMP,ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of DNA biosynthetic process  (ISO)
negative regulation of endothelial cell proliferation  (ISO)
negative regulation of gene expression  (IMP)
negative regulation of gonadotropin secretion  (ISO)
negative regulation of trophoblast cell migration  (ISO)
negative regulation of wound healing  (ISO)
neuron migration  (IMP)
neuron projection morphogenesis  (ISO)
obsolete positive regulation of blood vessel diameter  (ISO)
osteoblast differentiation  (IMP)
positive regulation of behavioral fear response  (ISO)
positive regulation of cell communication by chemical coupling  (ISO)
positive regulation of cold-induced thermogenesis  (IMP)
positive regulation of cytosolic calcium ion concentration  (ISO)
positive regulation of gene expression  (IMP,ISO)
positive regulation of glomerular filtration  (ISO)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (ISO)
positive regulation of insulin secretion  (ISO)
positive regulation of mesodermal cell differentiation  (ISO)
positive regulation of morphogenesis of an epithelium  (ISO)
positive regulation of protein catabolic process  (ISO)
positive regulation of smooth muscle cell chemotaxis  (ISO)
positive regulation of stem cell proliferation  (ISO)
positive regulation of striated muscle tissue development  (IMP)
positive regulation of vascular associated smooth muscle cell proliferation  (ISO)
positive regulation of vasoconstriction  (ISO)
regulation of apoptotic process  (ISO)
regulation of atrial cardiac muscle cell membrane depolarization  (IMP)
regulation of bicellular tight junction assembly  (ISO)
regulation of blood vessel remodeling  (TAS)
regulation of bone mineralization  (IMP)
regulation of bone remodeling  (IMP)
regulation of calcium ion transport  (ISO)
regulation of cell communication by electrical coupling  (ISO)
regulation of heart contraction  (IMP)
regulation of transmembrane transporter activity  (ISO)
regulation of ventricular cardiac muscle cell membrane depolarization  (IGI,IMP)
regulation of ventricular cardiac muscle cell membrane repolarization  (IGI,IMP)
response to estradiol  (ISO)
response to fluid shear stress  (ISO)
response to glucose  (ISO)
response to ischemia  (ISO)
response to lipopolysaccharide  (ISO)
response to peptide hormone  (ISO)
response to pH  (ISO)
response to retinoic acid  (ISO)
response to wounding  (ISO)
signal transduction  (ISO)
skeletal muscle tissue regeneration  (IDA)
spermatogenesis  (IMP)
T cell activation  (IDA)
T cell proliferation  (IMP)
transmembrane transport  (ISO)
vascular transport  (ISO)
xenobiotic transport  (IMP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal alisphenoid bone morphology  (IAGP)
abnormal ascending aorta and coronary artery attachment  (IAGP)
abnormal atrioventricular bundle conduction  (IAGP)
abnormal behavior  (IAGP)
abnormal blood circulation  (IAGP)
abnormal blood homeostasis  (IAGP)
abnormal bone marrow cell morphology/development  (IAGP)
abnormal brain morphology  (IAGP)
abnormal breathing pattern  (IAGP)
abnormal cardiac muscle contractility  (IAGP)
abnormal cardiac outflow tract development  (IAGP)
abnormal cardiovascular system physiology  (IAGP)
abnormal cell physiology  (IAGP)
abnormal cerebellar cortex morphology  (IAGP)
abnormal cerebellar granule layer morphology  (IAGP)
abnormal cerebellar lobule formation  (IAGP)
abnormal cerebellar Purkinje cell layer  (IAGP)
abnormal cerebellum external granule cell layer morphology  (IAGP)
abnormal cerebellum morphology  (IAGP)
abnormal circulating hormone level  (IAGP)
abnormal coronary artery morphology  (IAGP)
abnormal coronary vein morphology  (IAGP)
abnormal coronary vessel morphology  (IAGP)
abnormal cortical ventricular zone morphology  (IAGP)
abnormal craniofacial bone morphology  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal cranium morphology  (IAGP)
abnormal dentate gyrus morphology  (IAGP)
abnormal digit morphology  (IAGP)
abnormal epidermis stratum corneum morphology  (IAGP)
abnormal epidermis stratum granulosum morphology  (IAGP)
abnormal gait  (IAGP)
abnormal glial cell physiology  (IAGP)
abnormal granulosa cell morphology  (IAGP)
abnormal heart development  (IAGP)
abnormal heart electrocardiography waveform feature  (IAGP)
abnormal heart morphology  (IAGP)
abnormal heart rate  (IAGP)
abnormal heart right ventricle morphology  (IAGP)
abnormal heart right ventricle outflow tract morphology  (IAGP)
abnormal heart shape  (IAGP)
abnormal heart ventricle morphology  (IAGP)
abnormal hippocampus morphology  (IAGP)
abnormal impulse conducting system conduction  (IAGP)
abnormal incisor morphology  (IAGP)
abnormal interventricular septum morphology  (IAGP)
abnormal iris morphology  (IAGP)
abnormal lactation  (IAGP)
abnormal lymphatic vessel morphology  (IAGP)
abnormal mammary gland alveolus morphology  (IAGP)
abnormal mammary gland growth during pregnancy  (IAGP)
abnormal mammary gland luminal epithelium morphology  (IAGP)
abnormal milk ejection  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal muscle regeneration  (IAGP)
abnormal myocardial fiber physiology  (IAGP)
abnormal myocardial trabeculae morphology  (IAGP)
abnormal myocardium layer morphology  (IAGP)
abnormal nasal bone morphology  (IAGP)
abnormal nervous system development  (IAGP)
abnormal neurocranium morphology  (IAGP)
abnormal neutrophil physiology  (IAGP)
abnormal occipital bone morphology  (IAGP)
abnormal osteoblast differentiation  (IAGP)
abnormal osteoblast physiology  (IAGP)
abnormal ovarian follicle morphology  (IAGP)
abnormal ovary morphology  (IAGP)
abnormal parietal bone morphology  (IAGP)
abnormal phalanx morphology  (IAGP)
abnormal postnatal subventricular zone morphology  (IAGP)
abnormal proerythroblast morphology  (IAGP)
abnormal pulmonary gas exchange  (IAGP)
abnormal pulmonary valve morphology  (IAGP)
abnormal R wave  (IAGP)
abnormal radial glial cell morphology  (IAGP)
abnormal rib morphology  (IAGP)
abnormal semilunar valve morphology  (IAGP)
abnormal seminiferous tubule morphology  (IAGP)
abnormal Sertoli cell morphology  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal skin condition  (IAGP)
abnormal spermatid morphology  (IAGP)
abnormal spermatocyte morphology  (IAGP)
abnormal spermatogenesis  (IAGP)
abnormal spermatogonia morphology  (IAGP)
abnormal suckling behavior  (IAGP)
abnormal superovulation  (IAGP)
abnormal thoracic cage morphology  (IAGP)
abnormal tooth development  (IAGP)
abnormal tooth hard tissue morphology  (IAGP)
abnormal tooth morphology  (IAGP)
abnormal trabecula carnea morphology  (IAGP)
abnormal trabecular bone morphology  (IAGP)
abnormal vascular smooth muscle physiology  (IAGP)
abnormal vascular wound healing  (IAGP)
abnormal zygomatic arch morphology  (IAGP)
absent corpus luteum  (IAGP)
absent lymphatic vessels  (IAGP)
absent mature ovarian follicles  (IAGP)
arrest of spermatogenesis  (IAGP)
ataxia  (IAGP)
atrioventricular block  (IAGP)
azoospermia  (IAGP)
brittle teeth  (IAGP)
cardiac fibrosis  (IAGP)
cardiac hypertrophy  (IAGP)
cataract  (IAGP)
corneal opacity  (IAGP)
coronary artery aneurysm  (IAGP)
coronary fistula  (IAGP)
cyanosis  (IAGP)
decreased birth body size  (IAGP)
decreased birth weight  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone marrow cell number  (IAGP)
decreased bone mineral content  (IAGP)
decreased bone mineral density  (IAGP)
decreased bone strength  (IAGP)
decreased cardiac muscle contractility  (IAGP)
decreased germ cell number  (IAGP)
decreased granulosa cell proliferation  (IAGP)
decreased heart rate  (IAGP)
decreased litter size  (IAGP)
decreased male germ cell number  (IAGP)
decreased mature ovarian follicle number  (IAGP)
decreased ovulation rate  (IAGP)
decreased QRS amplitude  (IAGP)
decreased systemic arterial systolic blood pressure  (IAGP)
decreased testis weight  (IAGP)
decreased trabecular bone mass  (IAGP)
decreased tympanic ring size  (IAGP)
decreased ventricle muscle contractility  (IAGP)
delaminated cerebellar granule layer  (IAGP)
delaminated Purkinje cell layer  (IAGP)
delayed bone ossification  (IAGP)
delayed endochondral bone ossification  (IAGP)
delayed intramembranous bone ossification  (IAGP)
depressed nasal bridge  (IAGP)
dilated heart left ventricle  (IAGP)
ectopic cerebellar granule cells  (IAGP)
edema  (IAGP)
enlarged brain ventricles  (IAGP)
enlarged lateral ventricles  (IAGP)
female infertility  (IAGP)
heart inflammation  (IAGP)
heart right ventricle hypertrophy  (IAGP)
heart right ventricle outflow tract stenosis  (IAGP)
hypotension  (IAGP)
impaired luteinization  (IAGP)
impaired ovarian folliculogenesis  (IAGP)
impaired skin barrier function  (IAGP)
increased granulosa cell apoptosis  (IAGP)
increased heart rate  (IAGP)
increased Leydig cell number  (IAGP)
increased Sertoli cell number  (IAGP)
interparietal bone hypoplasia  (IAGP)
irregular heartbeat  (IAGP)
irregularly shaped pupil  (IAGP)
lethality throughout fetal growth and development, complete penetrance  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
lymphedema  (IAGP)
male infertility  (IAGP)
maternal effect  (IAGP)
microcephaly  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
oligozoospermia  (IAGP)
ovary cysts  (IAGP)
patent cardiac foramen ovale  (IAGP)
perinatal lethality  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
pointed snout  (IAGP)
poor grooming  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IAGP)
preweaning lethality, incomplete penetrance  (IAGP)
prolonged P wave  (IAGP)
prolonged PR interval  (IAGP)
prolonged QRS complex duration  (IAGP)
prolonged QT interval  (IAGP)
reduced enamel thickness  (IAGP)
reduced female fertility  (IAGP)
semilunar valve regurgitation  (IAGP)
short zygomatic bone  (IAGP)
shortened QT interval  (IAGP)
small cerebellum  (IAGP)
small cranium  (IAGP)
small face  (IAGP)
small frontal bone  (IAGP)
small heart  (IAGP)
small hippocampus  (IAGP)
small lower incisors  (IAGP)
small mandible  (IAGP)
small maxilla  (IAGP)
small nasal bone  (IAGP)
small neurocranium  (IAGP)
small ovary  (IAGP)
small seminiferous tubules  (IAGP)
small snout  (IAGP)
small testis  (IAGP)
sparse hair  (IAGP)
syndactyly  (IAGP)
thick aortic valve  (IAGP)
thick pulmonary valve  (IAGP)
thin external granule cell layer  (IAGP)
thin myocardium compact layer  (IAGP)
thin parietal bone  (IAGP)
thin ventricular wall  (IAGP)
ventricular fibrillation  (IAGP)
ventricular premature beat  (IAGP)
ventricular tachycardia  (IAGP)
References

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PMID:22496425   PMID:22498741   PMID:22518032   PMID:22549838   PMID:22563055   PMID:22564436   PMID:22566616   PMID:22577485   PMID:22608743   PMID:22611165   PMID:22611193   PMID:22615994  
PMID:22627279   PMID:22652908   PMID:22676250   PMID:22683331   PMID:22699423   PMID:22705883   PMID:22714552   PMID:22718243   PMID:22723301   PMID:22729649   PMID:22729691   PMID:22750450  
PMID:22752022   PMID:22771707   PMID:22775996   PMID:22792072   PMID:22797941   PMID:22824863   PMID:22843620   PMID:22859373   PMID:22865265   PMID:22930637   PMID:22947655   PMID:22960107  
PMID:22970183   PMID:22976005   PMID:23075222   PMID:23110066   PMID:23188169   PMID:23201262   PMID:23229005   PMID:23261389   PMID:23261543   PMID:23274689   PMID:23313578   PMID:23322705  
PMID:23359472   PMID:23376361   PMID:23456878   PMID:23483620   PMID:23542581   PMID:23554311   PMID:23558439   PMID:23595215   PMID:23606335   PMID:23618652   PMID:23627777   PMID:23637189  
PMID:23661717   PMID:23676271   PMID:23723064   PMID:23742896   PMID:23760924   PMID:23827947   PMID:23843235   PMID:23878018   PMID:23891909   PMID:23922949   PMID:23977027   PMID:24012498  
PMID:24012929   PMID:24043768   PMID:24048574   PMID:24081156   PMID:24139799   PMID:24143284   PMID:24154525   PMID:24163432   PMID:24186093   PMID:24199196   PMID:24211490   PMID:24213533  
PMID:24228978   PMID:24260576   PMID:24297173   PMID:24302722   PMID:24349371   PMID:24389413   PMID:24413171   PMID:24433183   PMID:24457600   PMID:24463523   PMID:24492000   PMID:24497041  
PMID:24498049   PMID:24526714   PMID:24563481   PMID:24578339   PMID:24583261   PMID:24588015   PMID:24590285   PMID:24612377   PMID:24694074   PMID:24700326   PMID:24705551   PMID:24716486  
PMID:24804968   PMID:24819345   PMID:24828015   PMID:24875170   PMID:24919967   PMID:24952961   PMID:25037920   PMID:25043105   PMID:25050930   PMID:25115184   PMID:25128085   PMID:25139742  
PMID:25139745   PMID:25143604   PMID:25166858   PMID:25209090   PMID:25225090   PMID:25262337   PMID:25269082   PMID:25270829   PMID:25336743   PMID:25348938   PMID:25488669   PMID:25500615  
PMID:25504652   PMID:25548899   PMID:25574809   PMID:25599332   PMID:25605500   PMID:25643695   PMID:25678382   PMID:25690864   PMID:25693895   PMID:25731866   PMID:25762685   PMID:25771952  
PMID:25914045   PMID:25952543   PMID:25960544   PMID:26039991   PMID:26045777   PMID:26079578   PMID:26098214   PMID:26100917   PMID:26116449   PMID:26120030   PMID:26154105   PMID:26163513  
PMID:26200696   PMID:26206424   PMID:26264759   PMID:26265072   PMID:26289751   PMID:26316108   PMID:26351758   PMID:26378152   PMID:26386426   PMID:26403541   PMID:26409319   PMID:26416492  
PMID:26459425   PMID:26517044   PMID:26539488   PMID:26556893   PMID:26565022   PMID:26586821   PMID:26599051   PMID:26648560   PMID:26676788   PMID:26758214   PMID:26759176   PMID:26762268  
PMID:26771001   PMID:26786475   PMID:26827898   PMID:26869446   PMID:26915330   PMID:26916723   PMID:26945892   PMID:26953188   PMID:26968493   PMID:26989172   PMID:27006115   PMID:27034963  
PMID:27097562   PMID:27113527   PMID:27113764   PMID:27127181   PMID:27156839   PMID:27172058   PMID:27180262   PMID:27244564   PMID:27250245   PMID:27281705   PMID:27391799   PMID:27437607  
PMID:27480124   PMID:27498006   PMID:27567941   PMID:27568517   PMID:27580092   PMID:27626200   PMID:27649478   PMID:27677282   PMID:27682878   PMID:27799555   PMID:27840317   PMID:27849058  
PMID:27870307   PMID:27871306   PMID:27929069   PMID:27957530   PMID:27991861   PMID:28049723   PMID:28066889   PMID:28069793   PMID:28096472   PMID:28124622   PMID:28138563   PMID:28188112  
PMID:28202692   PMID:28207192   PMID:28219934   PMID:28280004   PMID:28296544   PMID:28317237   PMID:28370142   PMID:28419546   PMID:28429502   PMID:28431249   PMID:28471544   PMID:28507509  
PMID:28561933   PMID:28607928   PMID:28634551   PMID:28648814   PMID:28667079   PMID:28674171   PMID:28687253   PMID:28689039   PMID:28705898   PMID:28706196   PMID:28714806   PMID:28724790  
PMID:28769076   PMID:28803831   PMID:28821660   PMID:28826662   PMID:28827800   PMID:28838986   PMID:28867552   PMID:28874395   PMID:28903063   PMID:28924218   PMID:29028795   PMID:29097069  
PMID:29104473   PMID:29107716   PMID:29119736   PMID:29146153   PMID:29149200   PMID:29154903   PMID:29259541   PMID:29279848   PMID:29293898   PMID:29295866   PMID:29327203   PMID:29361518  
PMID:29366904   PMID:29378301   PMID:29409032   PMID:29477453   PMID:29518331   PMID:29571253   PMID:29618634   PMID:29636699   PMID:29688375   PMID:29739982   PMID:29856785   PMID:29891713  
PMID:29959233   PMID:29970477   PMID:30013481   PMID:30026274   PMID:30031059   PMID:30097120   PMID:30116771   PMID:30185604   PMID:30243528   PMID:30254141   PMID:30287900   PMID:30301918  
PMID:30322759   PMID:30333316   PMID:30337521   PMID:30341186   PMID:30347193   PMID:30355030   PMID:30382767   PMID:30482881   PMID:30513376   PMID:30582443   PMID:30585358   PMID:30626485  
PMID:30628061   PMID:30661459   PMID:30735126   PMID:30770876   PMID:30837399   PMID:30872361   PMID:30897973   PMID:30910801   PMID:30936179   PMID:30963423   PMID:30980397   PMID:31033038  
PMID:31068292   PMID:31175668   PMID:31189653   PMID:31196952   PMID:31202927   PMID:31285774   PMID:31315456   PMID:31319679   PMID:31346164   PMID:31427427   PMID:31500276   PMID:31517984  
PMID:31547237   PMID:31652649   PMID:31741053   PMID:31751316   PMID:31752090   PMID:31778152   PMID:31868275   PMID:31910160   PMID:32054938   PMID:32070020   PMID:32103010   PMID:32231219  
PMID:32258035   PMID:32260308   PMID:32286624   PMID:32305450   PMID:32312952   PMID:32320893   PMID:32325033   PMID:32447392   PMID:32667624   PMID:32672536   PMID:32713021  


Genomics

Comparative Map Data
Gja1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391056,253,297 - 56,266,519 (+)NCBIGRCm39mm39
GRCm381056,377,300 - 56,390,419 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1056,377,330 - 56,402,513 (+)EnsemblGRCm38mm10GRCm38
MGSCv371056,097,106 - 56,110,225 (+)NCBIGRCm37mm9NCBIm37
MGSCv361056,065,762 - 56,078,833 (+)NCBImm8
Celera1057,194,935 - 57,208,041 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1028.64NCBI
GJA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6121,435,595 - 121,449,727 (+)EnsemblGRCh38hg38GRCh38
GRCh386121,435,646 - 121,449,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376121,756,745 - 121,770,873 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366121,798,444 - 121,812,572 (+)NCBINCBI36hg18NCBI36
Build 346121,798,486 - 121,812,571NCBI
Celera6122,501,175 - 122,515,303 (+)NCBI
Cytogenetic Map6q22.31NCBI
HuRef6119,340,180 - 119,354,307 (+)NCBIHuRef
CHM1_16122,020,528 - 122,034,696 (+)NCBICHM1_1
Gja1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02037,876,650 - 37,889,097 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2037,876,650 - 37,889,089 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02039,612,080 - 39,624,555 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42035,409,815 - 35,422,262 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12035,423,614 - 35,436,057 (+)NCBI
Celera2037,095,121 - 37,107,568 (+)NCBICelera
Cytogenetic Map20q11NCBI
Gja1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554363,612,533 - 3,618,095 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554363,612,533 - 3,618,095 (+)NCBIChiLan1.0ChiLan1.0
GJA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16123,348,744 - 123,360,887 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v06119,213,513 - 119,227,617 (+)NCBIMhudiblu_PPA_v0panPan3
GJA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl160,929,097 - 60,942,936 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1160,941,772 - 60,944,694 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
GJA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl140,988,515 - 41,002,137 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1140,988,818 - 41,002,129 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2145,543,880 - 45,557,193 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GJA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11352,397,291 - 52,410,341 (-)NCBI
Gja1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247989,358,996 - 9,364,413 (-)NCBI

Position Markers
AW546267  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381056,390,103 - 56,390,248UniSTSGRCm38
MGSCv371056,109,909 - 56,110,054UniSTSGRCm37
Celera1057,207,725 - 57,207,870UniSTS
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
Whitehead/MRC_RH10671.06UniSTS
X61576  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381056,389,401 - 56,389,586UniSTSGRCm38
MGSCv371056,109,207 - 56,109,392UniSTSGRCm37
Celera1057,207,023 - 57,207,208UniSTS
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
Whitehead_YAC10 UniSTS
D10Mit88  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381056,386,864 - 56,387,000UniSTSGRCm38
MGSCv371056,106,670 - 56,106,806UniSTSGRCm37
Celera1057,204,486 - 57,204,622UniSTS
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
Whitehead Genetic1020.8UniSTS
AU042049  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381056,390,103 - 56,390,336UniSTSGRCm38
MGSCv371056,109,909 - 56,110,142UniSTSGRCm37
Celera1057,207,725 - 57,207,958UniSTS
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
Whitehead/MRC_RH10672.43UniSTS
PMC55565P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381056,389,363 - 56,389,873UniSTSGRCm38
MGSCv371056,109,169 - 56,109,679UniSTSGRCm37
Celera1057,206,985 - 57,207,495UniSTS
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
Gja1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
cM Map1029.0UniSTS
PMC151788P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381056,388,353 - 56,388,685UniSTSGRCm38
MGSCv371056,108,159 - 56,108,491UniSTSGRCm37
Celera1057,205,975 - 57,206,307UniSTS
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
Gja1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10B4UniSTS
cM Map1029.0UniSTS
Gja1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10B4UniSTS


QTLs in Region (GRCm38)