Phenotypes Associated with This Genotype

Genotype
MGI:3711534

• Allelic Composition: Elovl4^tm1Wked/Elovl4⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv

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

vision/eye

abnormal retina pigment epithelium morphology ( J:121481 )

♀ • at 9 months of age there is an abnormal accumulation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) precursors (87% more A2PE-H and 31% more A2PE)

abnormal rod electrophysiology ( J:121481 )

♀ • at 8 months of age, mice a reduced rod amplitude (100+/-19 compared to 164+/-33 in wild-type)

abnormal vision ( J:121481 )

♀ • reduced vision

pigmentation

abnormal retina pigment epithelium morphology ( J:121481 )

♀ • at 9 months of age there is an abnormal accumulation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) precursors (87% more A2PE-H and 31% more A2PE)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stargardt disease		DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:121481