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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 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		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:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		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 chr20:1,390,734...1,392,685
Ensembl chr20:1,390,600...1,413,965 		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 3:27,442,679...27,449,306
Ensembl chr 3:27,442,709...27,449,306 		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 chr12:40,391,755...40,414,336
Ensembl chr12:40,392,633...40,414,335 		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 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504 		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 1:262,543,774...262,557,201
Ensembl chr 1:262,543,738...262,562,417 		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 chr18:62,689,798...62,691,685 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 chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		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:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		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 8:73,578,747...73,650,184
Ensembl chr 8:73,578,752...73,650,184 		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 9:50,087,271...50,134,225
Ensembl chr 9:50,083,903...50,204,607 		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 1:133,419,161...133,434,290
Ensembl chr 1:133,420,227...133,431,975 		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 1:243,049,064...243,173,636
Ensembl chr 1:243,049,081...243,173,230 		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 chr18:62,689,798...62,691,685 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 4:78,853,450...78,856,652
Ensembl chr 4:78,853,453...78,856,457 		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 2:177,135,649...177,147,257
Ensembl chr 2:177,135,659...177,147,914 		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 chr14:62,822,865...62,828,602
Ensembl chr14:62,811,177...62,829,125 		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 IAGP RGD PMID:7542218 RGD:12910748 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 IAGP RGD PMID:7542218 RGD:12910748
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5440
    muscle phenotype 200
      abnormal muscle physiology 126
        abnormal muscle contractility 76
          abnormal cardiac muscle contractility + 36
          abnormal esophageal peristalsis + 0
          abnormal intestinal peristalsis + 3
          abnormal vasoconstriction + 33
          impaired muscle contractility + 32
paths to the root