Human Disease and Mouse Model Detail

Human Disease

Term: Usher Syndrome, Type IIC; USH2C
OMIM ID: 605472

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...

Gpr98

GPR98

...both mouse and human orthologous genes.

Slc4a7

SLC4A7

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Pdzd7

PDZD7

...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
Gpr98^tm1Msat/Gpr98^tm1Msat		involves: 129P2/OlaHsd * C57BL/6J	J:122415
Gpr98^tm1Pwh/Gpr98^tm1Pwh		involves: 129S1/Sv * C57BL/6J	J:109595
Models with phenotypic similarity to human disease where etiologies are distinct.²
Slc4a7^tm1Krtz/Slc4a7^tm1Krtz		involves: 129S5/SvEvBrd * C57BL/6	J:86635

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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