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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 contractility
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Accession:MP:0005620 term browser browse the term
Definition:aberrant ability of a muscle to shorten or to develop increased tension


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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
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 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 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
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 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 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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5420
    muscle phenotype 199
      abnormal muscle physiology 124
        abnormal muscle contractility 74
          abnormal cardiac muscle contractility + 36
          abnormal esophageal peristalsis + 0
          abnormal intestinal peristalsis + 1
          abnormal vasoconstriction + 33
          impaired muscle contractility + 32
paths to the root