Human Disease and Mouse Model Detail

Human Disease

Term: Usher Syndrome, Type ID; USH1D
OMIM ID: 601067

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...

Cdh23

CDH23

...both mouse and human orthologous genes.

Pcdh15

PCDH15

...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
Cdh23^v-2J/Cdh23^v-2J		B6(V)-Cdh23^v-2J/J	J:66698
Cdh23^v-3J/Cdh23⁺		C57BL/6J	J:174130
Cdh23^v-4J/Cdh23^v-4J		involves: C57BLKS/J	J:174130
Cdh23^v-5J/Cdh23^v-5J		SENCARA/PtJ	J:174130
Cdh23^v-6J/Cdh23^v-6J		B10.A-H2^h4/(4R)SgDvEgJ-Cdh23^v-6J/J	J:66698
Cdh23^v-7J/Cdh23^v-7J		CByJ(Cg)-Cdh23^v-7J/GrsrJ	J:174130
Cdh23^v-Alb/Cdh23^v-Alb		involves: C3H/HeJ * C57BL/6	J:66698
Cdh23^v-bus/Cdh23^v-bus		involves: KYF/MsIdr	J:174130
Cdh23^v-J/Cdh23^v-J		B6.C-H2-K^bm1/ByJ	J:174130
Cdh23^v-ngt/Cdh23^v-ngt		involves: ICR * MSM	J:174130
Cdh23^v/Cdh23^v		involves: fancier's stocks	J:174130

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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