Phenotypes for Abca4 Rdh8 MGI:6159294 MGI Mouse

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Phenotypes Associated with This Genotype

Allelic Composition	Abca4^tm1Kpal/Abca4^tm1Kpal Rdh8^tm1Kpal/Rdh8^tm1Kpal
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4^tm1Kpal mutation (0 available); any Abca4 mutation (108 available)
Rdh8^tm1Kpal mutation (2 available); any Rdh8 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal eye morphology ( J:213619 )

• the eyecups of 6 month old mice contain the fluorescent by-product of retinal metabolism lipofusin pdA2E

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
age related macular degeneration	DOID:10871	OMIM:PS603075	J:213619
Stargardt disease	DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:213619

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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