Phenotypes Associated with This Genotype

Genotype
MGI:3696675

• Allelic Composition: Elovl4^tm1Rayy/Elovl4⁺
• Genetic Background: involves: 129 * C57BL/6J

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

vision/eye

abnormal eye morphology ( J:114752 )

• display altered levels of long-fatty chain n-3 fatty acids in the eyeballs of P0 pups with no photoreceptors

abnormal retina morphology ( J:114752 )

• display altered levels of long-fatty chain n-3 fatty acids in the retina at 6 months of age

abnormal photoreceptor outer segment morphology ( J:114752 )

• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age

short retina rod cell outer segment ( J:114752 )

• by 10 months of age, but not earlier, the length of rod outer segments and the thickness of the outer nuclear layer appears thin

• rod outer segment length at the far periphery and mid periphery is significantly shorter at 10 months of age, but no difference in the central region

retina photoreceptor degeneration ( J:114752 )

• develop progressive photoreceptor degeneration from 2 months of age

retina cone cell degeneration ( J:114752 )

• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months

• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older

retina rod cell degeneration ( J:114752 )

• loss of rod photoreceptors after 10 months of age

abnormal retina pigment epithelium morphology ( J:114752 )

• abnormalities are seen as early as 2 months of age and include increased thickness, undigested outer segment packets, lipofuscin, vacuoles, and deposits of pigmented debris in the subretinal space

thin retina outer nuclear layer ( J:114752 )

• by 10 months of age, the outer nuclear layer appears thin and contains fewer cells

abnormal retina outer plexiform layer morphology ( J:114752 )

• the outer plexiform layer contains gaps and exhibits areas surrounding the rod spherules that appear to be empty and lack the extracellular matrix

abnormal eye electrophysiology ( J:114752 )

• at 8 months of age, b- and a-wave amplitudes are higher in dark- and light-adapted responses

• the implicit time of the b-wave in the dark-adapted responses is significantly delayed

abnormal cone electrophysiology ( J:114752 )

• the b-wave amplitudes are higher in the cone-driven light-adapted responses at 8 and 15 months of age

homeostasis/metabolism

abnormal fatty acids level ( J:114752 )

• display altered levels of long-fatty chain n-3 fatty acids in the eyeballs of P0 pups with no photoreceptors and in the retina at 6 months of age

nervous system

abnormal photoreceptor outer segment morphology ( J:114752 )

• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age

short retina rod cell outer segment ( J:114752 )

• by 10 months of age, but not earlier, the length of rod outer segments and the thickness of the outer nuclear layer appears thin

• rod outer segment length at the far periphery and mid periphery is significantly shorter at 10 months of age, but no difference in the central region

retina photoreceptor degeneration ( J:114752 )

• develop progressive photoreceptor degeneration from 2 months of age

retina cone cell degeneration ( J:114752 )

• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months

• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older

retina rod cell degeneration ( J:114752 )

• loss of rod photoreceptors after 10 months of age

pigmentation

abnormal retina pigment epithelium morphology ( J:114752 )

• abnormalities are seen as early as 2 months of age and include increased thickness, undigested outer segment packets, lipofuscin, vacuoles, and deposits of pigmented debris in the subretinal space

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stargardt disease		DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:114752