Human Disease and Mouse Model Detail

Human Disease

Term: Usher Syndrome, Type I; USH1
OMIM ID: 276900

Synonyms

Us1

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...

Myo7a

MYO7A

...both mouse and human orthologous genes.

Ush1c

USH1C

...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
Myo7a^26SB/Myo7a^26SB		involves: BALB/cRl	J:42644
Myo7a^3336SB/Myo7a^3336SB		involves: BALB/cRl	J:42644
Myo7a^4494SB/Myo7a^4494SB		involves: BALB/cRl	J:42644
Myo7a^816SB/Myo7a^816SB		involves: BALB/cRl	J:42644
Myo7a^816SB/Myo7a^816SB		involves: BALB/cRl * 47BS/Rl	J:46373
Myo7a^Hdb/Myo7a^4626SB		involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca	J:93998
Myo7a^polka/Myo7a^polka		involves: C57BL/6J	J:157102
Myo7a^sh1-11J/Myo7a^sh1-11J		129.B6-Myo7a^sh1-11J	J:181430
Myo7a^sh1-6J/Myo7a^sh1-6J		involves: C57BLKS/J	J:17340
Myo7a^sh1-9J/Myo7a^sh1-9J		involves: C3.MRL-Fas^lpr/J	J:49039
Myo7a^sh1/Myo7a^sh1		involves: BALB	J:5133, J:15554

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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