Human Disease and Mouse Model Detail

Human Disease

Term: Leber Congenital Amaurosis 1; LCA1
OMIM ID: 204000

Synonyms

Amaurosis Congenita of Leber I; LCA; Retinal Blindness, Congenital; CRB

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...

Gucy2e

GUCY2D

...both mouse and human orthologous genes.

Gucy2f

GUCY2F

...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
Gucy2e^tm1Gar/Gucy2e^tm1Gar Gucy2f^tm1Wbae/Gucy2f^tm1Wbae		involves: 129S6/SvEvTac	J:120903

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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