Human Disease and Mouse Model Detail

Human Disease

Term: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or without Atrial Dysfunction and/or Dilated Cardiomyopathy; CPVT1
OMIM ID: 604772

Synonyms

Ventricular Tachycardia, Stress-Induced Polymorphic; VTSIP

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Ryr2

RYR2

...both mouse and human orthologous genes.

Casq2	CASQ2
Trdn	TRDN

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Ryr2^tm1.1Clhh/Ryr2^tm1.1Clhh		129S/SvEv-Ryr2^tm1.1Clhh	J:186379
Ryr2^tm1.1Maya/Ryr2⁺		C57BL/6J-Ryr2^tm1.1Maya	J:159451
Ryr2^tm1Sgp/Ryr2⁺		involves: 129/Sv * C57BL/6	J:109683
Ryr2^tm1Slh/Ryr2⁺		involves: 129S7/SvEvBrd * C57BL/6	J:111780

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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