Human Disease and Mouse Model Detail

Human Disease

Term: Leber Congenital Amaurosis 2; LCA2
OMIM ID: 204100

Synonyms

Amaurosis Congenita of Leber II

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...

Rpe65

RPE65

...both mouse and human orthologous genes.

Cnga3

CNGA3

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Cnga3^tm1Biel/Cnga3^tm1Biel Rpe65^tm1Tmr/Rpe65^tm1Tmr		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:71529
Rpe65^rd12/Rpe65^rd12		C57BL/6J	J:104929
Rpe65^tm1Tmr/Rpe65^tm1Tmr		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	5

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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