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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 morphology
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Accession:MP:0002108 term browser browse the term
Definition:any structural anomaly of the contractile tissue that produces movement in animals
Synonyms:exact_synonym: abnormal musculature morphology;   muscle abnormalities;   muscle dysplasia;   musculature abnormalities;   musculature: muscle dysmorphology
 alt_id: MP:0000728;   MP:0000735;   MP:0000758
 xref: MGI:2173558



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abnormal sarcomere morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
abnormal soleus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
abnormal tendon collagen fibril morphology 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
abnormal tendon morphology 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
centrally nucleated skeletal muscle fibers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
decreased gastrocnemius weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP RGD PMID:32259258 RGD:39457703
decreased skeletal muscle fiber diameter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25310701 PMID:25005781 RGD:12880034, RGD:11040981 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 Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
decreased tibialis anterior weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25310701 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 Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP RGD PMID:32259258 RGD:39457703
enlarged myocardial fiber term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
heart left ventricle hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A IDA RGD PMID:16157796 RGD:1581830 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Egfr epidermal growth factor receptor IDA RGD PMID:12624003 RGD:1580955 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
G Sod3 superoxide dismutase 3 IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712 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 RGD PMID:31972339 RGD:150573712
increased cardiac muscle calcium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
increased muscle weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mstn myostatin IMP RGD PMID:27289021 RGD:13831345 NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
JBrowse link
increased skeletal muscle fiber size term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mstn myostatin IMP compared to wild type RGD PMID:25640143 RGD:151347429 NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
JBrowse link
G Mstnem1Mcwi myostatin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to wild type RGD PMID:25640143 RGD:151347429
increased skeletal muscle glycogen level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 IMP compared to wild type RGD PMID:30616503 RGD:150573710 NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Abcc8em1Cgen ATP binding cassette subfamily C member 8; TALEN induced mutant 1, Cgen IMP compared to wild type RGD PMID:30616503 RGD:150573710
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 skeletal muscle mass term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mstn myostatin IMP compared to wild type RGD PMID:25640143 RGD:151347429 NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
JBrowse link
G Mstnem1Mcwi myostatin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to wild type RGD PMID:25640143 RGD:151347429
increased skeletal muscle weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pparg peroxisome proliferator-activated receptor gamma induces IAGP RGD PMID:27381370 RGD:127285618 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargm1Kyo peroxisome proliferator-activated receptor gamma; ENU induced mutant 1, Kyo induces IAGP RGD PMID:27381370 RGD:127285618
increased tibialis anterior weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
muscle degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
myocardium steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:28808185 RGD:13703132 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
small myocardial fiber term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb16 zinc finger and BTB domain containing 16 IMP compared to wild type SHR/OlaIpcv; RGD PMID:28396530 RGD:150340623 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
JBrowse link
G Zbtb16em1Ipcv zinc finger and BTB domain containing 16; TALEN induced mutant 1, Ipcv IMP compared to wild type SHR/OlaIpcv; RGD PMID:28396530 RGD:150340623
vascular smooth muscle hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 IMP RGD PMID:25593290 RGD:38500244 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Bmpr2em1Ang bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Ang IMP RGD PMID:25593290 RGD:38500244
G Pld2 phospholipase D2 IDA angiotensin II induced RGD PMID:16113073 RGD:1642674 NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
JBrowse link
G Prkcz protein kinase C, zeta IDA angiotensin II induced RGD PMID:16113073 RGD:1642674 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5369
    muscle phenotype 190
      abnormal muscle morphology 93
        abnormal cardiac muscle tissue morphology + 54
        abnormal eye muscle morphology + 0
        abnormal muscle development + 0
        abnormal muscle fiber morphology + 15
        abnormal muscle glycogen level + 7
        abnormal muscle triglyceride level + 0
        abnormal muscle weight + 4
        abnormal skeletal muscle morphology + 24
        abnormal smooth muscle morphology + 11
        abnormal tendon morphology + 3
        calcified muscle 0
        decreased muscle tumor incidence + 0
        dystrophic muscle 0
        increased muscle tumor incidence + 1
        muscle degeneration + 3
        muscle hypoplasia + 0
        muscular atrophy + 1
paths to the root