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Human Disease and Mouse Model Detail
Human Disease

Term: Leber Congenital Amaurosis 4; LCA4
OMIM ID: 604393

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...
Aipl1 AIPL1
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Aipl1tm1Mad/Aipl1tm1Mad   involves: 129S7/SvEvBrd J:94655
Aipl1tm1Tili/Aipl1tm1Tili   involves: 129S4/SvJae * C57BL/6 J:92601
Aipl1tm1Visu/Aipl1tm1Visu   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:92617

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
Citing These Resources
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory