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
Accession: MP:0002106
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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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
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Ttnem1Sage
Titin; zinc finger nuclease induced mutant 1,Sigma Advanced Genetic Engineering Labs
IAGP
RGD
PMID:27869827
RGD:11565821
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Ttnem2Sage
Titin; zinc finger nuclease induced mutant 2,Sigma Advanced Genetic Engineering Labs
IAGP
RGD
PMID:27869827
RGD:11565821
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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
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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
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Park7em1Sage
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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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
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Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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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
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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
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Nfe2l2em1Mcwi
nuclear factor, erythroid 2-like 2; TALEN induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:26637559
RGD:11344212
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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
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Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
IMP
RGD
PMID:24322611
RGD:38548929
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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
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
onset
IMP
compared to Wild type
RGD
PMID:29979634
RGD:401976416
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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
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Ubdem1
ubiquitin D; CRISPR/Cas9 induced mutant1
IMP
associated with induced myocardial infarction
RGD
PMID:29438664
RGD:126925221
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
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
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
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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
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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
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Il36rntm1(Myh6-cre)Mhzh
interleukin 36 receptor antagonist; tm1, Mhzh
IMP
RGD
PMID:32048631
RGD:126925167
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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
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Sh2b3em2Mcwi
SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:25628389
RGD:12904914
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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
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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
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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
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Mkxem1Asah
mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah
IMP
compared to Wistar
RGD
PMID:27370800
RGD:40924660
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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
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Add3em1Mcwi
adducin 3; ZFN induced mutant1, Mcwi
induces
IMP
compared to wild-type
RGD
PMID:32029431
RGD:150340736
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Add3em2Mcwi
adducin 3; ZFN induced mutant2, Mcwi
induces
IMP
compared to WT
RGD
PMID:32029431
RGD:150340736
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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
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Dusp5em1Mcwi
dual specificity phosphatase 5; ZFN induced mutant1, Mcwi
IMP
compared to FHH.1BN
RGD
PMID:25397684
RGD:13446412
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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
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Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
RGD
PMID:24400148
RGD:13825242
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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
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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
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Kcnk3em1Ang
potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang
IMP
RGD
PMID:31347976
RGD:151347452
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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
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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
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
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
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
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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
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
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
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
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
G
Ubdem1
ubiquitin D; CRISPR/Cas9 induced mutant1
IMP
associated with induced myocardial infarction
RGD
PMID:29438664
RGD:126925221
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
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
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
G
Tbc1d1Tn(sb)1Fkh
TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh
induces
IMP
RGD
PMID:28808062
RGD:150521563
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
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
G
Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
RGD
PMID:24400148
RGD:13825242
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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
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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
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
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
IMP
XCO:0000145
RGD
PMID:24322611
RGD:38548929
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
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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
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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
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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
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
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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
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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
G
Oprl1m1Hubr
opioid related nociceptin receptor 1; ENU induced mutant1, Hubr
IMP
RGD
PMID:21184763
RGD:126925219
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
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
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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
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