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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:muscle phenotype
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Accession:MP:0005369 term browser browse the term
Definition:the observable morphological and physiological characteristics of the mammalian tissue composed of contractile cells or fibers that effects movement of an organ or part of the body that are manifested through development and lifespan


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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 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
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
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 cardiac muscle contractility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416
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 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 heart 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
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 myocardial fiber size 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
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 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 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
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
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 chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Lepr leptin receptor treatment IAGP RGD PMID:33568522 RGD:401965412 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		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
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 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 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 collagen deposition in the muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor treatment IAGP compared to treated RGD PMID:33568522 RGD:401965412 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
increased heart 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
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 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 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933 		JBrowse link
increased myocardial fiber size 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 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 9:48,452,533...48,458,933
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 1:96,598,568...96,679,563
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 9:48,452,533...48,458,933
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
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
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 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
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
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
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
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 5417
    muscle phenotype 199
      abnormal muscle morphology + 98
      abnormal muscle physiology + 124
paths to the root