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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:abnormal muscle physiology
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Accession:MP:0002106 term browser browse the term
Definition:any functional anomaly of the muscle, not due to an anatomical defect
Synonyms:exact_synonym: muscle physiology abnormalities;   musculature: physiological defects
 alt_id: MP:0002105
 xref: MGI:2173559



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abnormal cardiac muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin IAGP RGD PMID:27869827 RGD:11565821 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ttnem1Sage Titin; zinc finger nuclease induced mutant 1,Sigma Advanced Genetic Engineering Labs IAGP RGD PMID:27869827 RGD:11565821
G Ttnem2Sage Titin; zinc finger nuclease induced mutant 2,Sigma Advanced Genetic Engineering Labs IAGP RGD PMID:27869827 RGD:11565821
abnormal cardiac muscle relaxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type IDA RGD PMID:10946062 RGD:1580434 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
abnormal muscle tone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24969022 RGD:13210569
G Pink1 PTEN induced kinase 1 IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24969022 RGD:13210569
abnormal vasodilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr182 G protein-coupled receptor 182 IDA RGD PMID:7592696 RGD:61533 NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IMP RGD PMID:26637559 RGD:11344212 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfe2l2em1Mcwi nuclear factor, erythroid 2-like 2; TALEN induced mutant 1, Medical College of Wisconsin IMP RGD PMID:26637559 RGD:11344212
G Sod3 superoxide dismutase 3 IMP DNA:missense mutation:CDS:p.E124D RGD PMID:24322611 RGD:38548929 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin IMP RGD PMID:24322611 RGD:38548929
decreased cardiac muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubd ubiquitin D IMP associated with induced myocardial infarction RGD PMID:29438664 RGD:126925221 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639
JBrowse link
G Ubdem1 ubiquitin D; CRISPR/Cas9 induced mutant1 IMP associated with induced myocardial infarction RGD PMID:29438664 RGD:126925221
decreased cardiac muscle relaxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin IAGP RGD PMID:27869827 RGD:11565821 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ttnem1Sage Titin; zinc finger nuclease induced mutant 1,Sigma Advanced Genetic Engineering Labs IAGP RGD PMID:27869827 RGD:11565821
G Ttnem2Sage Titin; zinc finger nuclease induced mutant 2,Sigma Advanced Genetic Engineering Labs IAGP RGD PMID:27869827 RGD:11565821
decreased cardiomyocyte apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rl2 interleukin 1 receptor-like 2 IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167 NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
JBrowse link
G Il1rl2tm1(Myh6-cre)Mhzh interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167
decreased muscle cell glucose uptake term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d1 TBC1 domain family member 1 induces IMP compared to Wild type RGD PMID:28808062 RGD:150521563 NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499
JBrowse link
G Tbc1d1Tn(sb)1Fkh TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh induces IMP compared to Wild type RGD PMID:28808062 RGD:150521563
decreased tendon stiffness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkx mohawk homeobox IMP compared to Wistar RGD PMID:27370800 RGD:40924660 NCBI chr17:55,077,073...55,156,877
Ensembl chr17:55,077,540...55,156,124
JBrowse link
G Mkxem1Asah mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah IMP compared to Wistar RGD PMID:27370800 RGD:40924660
decreased vasoconstriction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 induces IMP compared to WT RGD PMID:32029431 RGD:150340736 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
JBrowse link
G Add3em1Mcwi adducin 3; ZFN induced mutant1, Mcwi induces IMP compared to wild-type RGD PMID:32029431 RGD:150340736
G Add3em2Mcwi adducin 3; ZFN induced mutant2, Mcwi induces IMP compared to WT RGD PMID:32029431 RGD:150340736
G Dusp5 dual specificity phosphatase 5 IMP compared to FHH.1BN RGD PMID:25397684 RGD:13446412 NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
JBrowse link
G Dusp5em1Mcwi dual specificity phosphatase 5; ZFN induced mutant1, Mcwi IMP compared to FHH.1BN RGD PMID:25397684 RGD:13446412
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
G Slc6a4 solute carrier family 6 member 4 IMP RGD PMID:18263707 RGD:4889513 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link
decreased vasodilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk3 potassium two pore domain channel subfamily K member 3 IMP RGD PMID:31347976 RGD:151347452 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
JBrowse link
G Kcnk3em1Ang potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31347976 RGD:151347452
G Mir29b1 microRNA 29b-1 IMP RGD PMID:29374012 RGD:13702880 NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067
JBrowse link
G Mir29b1em1Mcwi microRNA 29b-1; TALEN induced mutant 1, Medical College of Wisconsin IMP RGD PMID:29374012 RGD:13702880
G Nfe2l2 NFE2 like bZIP transcription factor 2 IMP compared to SD RGD PMID:26637559 RGD:11344212 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfe2l2em1Mcwi nuclear factor, erythroid 2-like 2; TALEN induced mutant 1, Medical College of Wisconsin IMP compared to SD RGD PMID:26637559 RGD:11344212
G Sod3 superoxide dismutase 3 IMP compared to SS/JrHsdMcwi;DNA:missense mutation:cds:p.E124D RGD PMID:24322611 RGD:38548929 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi;DNA:missense mutation:cds:p.E124D RGD PMID:24322611 RGD:38548929
decreased ventricle muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il36rn interleukin 36 receptor antagonist IMP RGD PMID:32048631 RGD:126925167 NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
JBrowse link
G Il36rntm1(Myh6-cre)Mhzh interleukin 36 receptor antagonist; tm1, Mhzh IMP RGD PMID:32048631 RGD:126925167
G Sh2b3 SH2B adaptor protein 3 IMP RGD PMID:25628389 RGD:12904914 NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Sh2b3em2Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:25628389 RGD:12904914
impaired skeletal muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:25748727 RGD:13782369 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:25748727 RGD:13782369
impaired smooth muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 IDA inhibition decreases both calcium-stimulated and unstimulated myogenic tone in middle cerebral arteries (p<0.001) RGD PMID:10198244 RGD:2293329 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
JBrowse link
increased cardiac muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rl2 interleukin 1 receptor-like 2 IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167 NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
JBrowse link
G Il1rl2tm1(Myh6-cre)Mhzh interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167
increased cardiomyocyte apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubd ubiquitin D IMP associated with induced myocardial infarction RGD PMID:29438664 RGD:126925221 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639
JBrowse link
G Ubdem1 ubiquitin D; CRISPR/Cas9 induced mutant1 IMP associated with induced myocardial infarction RGD PMID:29438664 RGD:126925221
increased muscle fatigability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d1 TBC1 domain family member 1 induces IMP RGD PMID:28808062 RGD:150521563 NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499
JBrowse link
G Tbc1d1Tn(sb)1Fkh TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh induces IMP RGD PMID:28808062 RGD:150521563
increased vasoconstriction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:31125292 RGD:14696718 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
JBrowse link
G Htr7em1Msu 5-hydroxytryptamine receptor 7; CRISPR/Cas9 induced mutant 1, Msu IMP RGD PMID:31125292 RGD:14696718
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
G Rarres2 retinoic acid receptor responder 2 sexual_dimorphism IMP
IAGP
compared to female knockout
compared to wild-type
RGD PMID:29906243 PMID:29906243 PMID:29906243 RGD:38596340, RGD:38596340, RGD:38596340 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
JBrowse link
G Rarres2em1Msu retinoic acid receptor responder 2; CRISPR/Cas9 induced mutant 1, Msu sexual_dimorphism IMP
IAGP
compared to female knockout
compared to wild-type
RGD PMID:29906243 PMID:29906243 PMID:29906243 RGD:38596340, RGD:38596340, RGD:38596340
G Shc1 SHC adaptor protein 1 IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Shc1em1Mcwi SHC adaptor protein 1; ZFN induced mutant 1, Medical College of Wisconsin IMP RGD PMID:27270176 RGD:12792230
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin IMP RGD PMID:27270176 RGD:12792230
G Sod3 superoxide dismutase 3 IMP XCO:0000145;DNA:missense mutation:cds:p.E124D RGD PMID:24322611 RGD:38548929 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin IMP XCO:0000145 RGD PMID:24322611 RGD:38548929
increased vasodilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gper1 G protein-coupled estrogen receptor 1 IMP compared to wild type SS rat RGD PMID:30354811 RGD:39939000 NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889
JBrowse link
G Gper1em1Bj G protein-coupled estrogen receptor 1; CRISPR/Cas 9 induced mutant 1, Bj IMP compared to wild type SS rat RGD PMID:30354811 RGD:39939000
G Hmox1 heme oxygenase 1 IDA RGD PMID:15057912 RGD:1580452 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Plekha7 pleckstrin homology domain containing A7 IMP compared to wild type RGD PMID:25136115 RGD:11079199 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
JBrowse link
G Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin IMP compared to wild type RGD PMID:25136115 RGD:11079199
G Sod3 superoxide dismutase 3 IMP compared to SS/JrHsdMcwi;DNA:missense mutation:CDS:p.E124D RGD PMID:24322611 RGD:38548929 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi;DNA:missense mutation:CDS:p.E124D RGD PMID:24322611 RGD:38548929
increased ventricle muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 IMP compared to SS/JrHsdMcw RGD PMID:25687237 RGD:10401852 NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
G Nr2f2em1Mcwi nuclear receptor subfamily 2, group F, member 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to SS/JrHsdMcw RGD PMID:25687237 RGD:10401852
intestinal hypoperistalsis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase IMP RGD PMID:7542218 RGD:12910748 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
muscle twitch term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oprl1 opioid related nociceptin receptor 1 IMP RGD PMID:21184763 RGD:126925219 NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920
JBrowse link
G Oprl1m1Hubr opioid related nociceptin receptor 1; ENU induced mutant1, Hubr IMP RGD PMID:21184763 RGD:126925219
muscle weakness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 PMID:25310701 RGD:11040981, RGD:12880034 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:32710530 RGD:401960103 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
opisthotonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA IAGP DNA:rearrangement:exon:a 141-bp exon skipped RGD PMID:17185506 RGD:1600835 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5402
    muscle phenotype 196
      abnormal muscle physiology 121
        abnormal cardiomyocyte apoptosis + 6
        abnormal facial muscle physiology + 0
        abnormal fetal cardiomyocyte proliferation + 0
        abnormal gastroesophageal sphincter physiology + 0
        abnormal muscle cell glucose uptake + 3
        abnormal muscle contractility + 71
        abnormal muscle electrophysiology + 0
        abnormal muscle precursor cell physiology + 0
        abnormal muscle regeneration + 0
        abnormal muscle relaxation + 10
        abnormal muscle tone + 6
        abnormal skeletal muscle cell apoptosis + 0
        abnormal skeletal muscle satellite cell proliferation + 0
        abnormal tendon physiology + 3
        abnormal vascular smooth muscle physiology + 51
        cardiomyopathy + 1
        decreased muscle fatigability 0
        diaphragmitis 0
        increased muscle fatigability 3
        increased muscle free fatty acids level 0
        muscle hemorrhage 0
        muscle twitch + 5
        muscle weakness + 13
        myopathy 0
        myositis 0
        ophthalmoplegia 0
paths to the root