Human Disease and Mouse Model Detail

Human Disease

Term: Macular Degeneration, Age-Related, 2; ARMD2
OMIM ID: 153800

Synonyms

Macular Degeneration, Senile; Maculopathy, Age-Related, 2

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.

Ccl2	CCL2
Ccr2	CCR2
Rdh8	RDH8

...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
Abca4^tm1Ght/Abca4^tm1Ght Rdh8^tm1Kpal/Rdh8^tm1Kpal		involves: 129S4/SvJae	J:154536
Models with phenotypic similarity to human disease where etiologies are distinct.²
Ccl2^tm1Rol/Ccl2^tm1Rol		B6.129S4-Ccl2^tm1Rol	J:147328
Ccr2^tm1Mae/Ccr2^tm1Mae		B6.129P2-Ccr2^tm1Mae	J:147328

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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