Human Disease and Mouse Model Detail

Human Disease

Term: Stargardt Disease 1; STGD1
OMIM ID: 248200

Synonyms

Macular Degeneration, Juvenile; STGD

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...

Abca4

ABCA4

...both mouse and human orthologous genes.

Cngb3

CNGB3

...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
Abca4^tm1Ght/Abca4^tm1Ght		involves: 129S4/SvJae * C57BL/6	J:56317
Abca4^tm1Ght/Abca4^tm1Ght		involves: 129S4/SvJae	J:141801
Abca4^tm1Ght/Abca4^tm1Ght		involves: 129S4/SvJae * BALB/c	J:141801

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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