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Phenotypes Associated with This Genotype
Genotype
MGI:3696675
Allelic
Composition
Elovl4tm1Rayy/Elovl4+
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elovl4tm1Rayy mutation (1 available); any Elovl4 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• display altered levels of long-fatty chain n-3 fatty acids in the eyeballs of P0 pups with no photoreceptors (J:114752)
• display altered levels of long-fatty chain n-3 fatty acids in the eyeballs of P0 pups with no photoreceptors (J:114752)
• display altered levels of long-fatty chain n-3 fatty acids in the retina at 6 months of age (J:114752)
• display altered levels of long-fatty chain n-3 fatty acids in the retina at 6 months of age (J:114752)
• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age (J:114752)
• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age (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 (J:114752)
• 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 (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 (J:114752)
• 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 (J:114752)
• develop progressive photoreceptor degeneration from 2 months of age (J:114752)
• develop progressive photoreceptor degeneration from 2 months of age (J:114752)
• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months (J:114752)
• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older (J:114752)
• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months (J:114752)
• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older (J:114752)
• loss of rod photoreceptors after 10 months of age (J:114752)
• loss of rod photoreceptors after 10 months of age (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 (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 (J:114752)
• by 10 months of age, the outer nuclear layer appears thin and contains fewer cells (J:114752)
• by 10 months of age, the outer nuclear layer appears thin and contains fewer cells (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 (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 (J:114752)
• at 8 months of age, b- and a-wave amplitudes are higher in dark- and light-adapted responses (J:114752)
• the implicit time of the b-wave in the dark-adapted responses is significantly delayed (J:114752)
• at 8 months of age, b- and a-wave amplitudes are higher in dark- and light-adapted responses (J:114752)
• the implicit time of the b-wave in the dark-adapted responses is significantly delayed (J:114752)
• the b-wave amplitudes are higher in the cone-driven light-adapted responses at 8 and 15 months of age (J:114752)
• the b-wave amplitudes are higher in the cone-driven light-adapted responses at 8 and 15 months of age (J:114752)

homeostasis/metabolism
• 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 (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 (J:114752)

nervous system
• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age (J:114752)
• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age (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 (J:114752)
• 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 (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 (J:114752)
• 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 (J:114752)
• develop progressive photoreceptor degeneration from 2 months of age (J:114752)
• develop progressive photoreceptor degeneration from 2 months of age (J:114752)
• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older (J:114752)
• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months (J:114752)
• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months (J:114752)
• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older (J:114752)
• loss of rod photoreceptors after 10 months of age (J:114752)
• loss of rod photoreceptors after 10 months of age (J:114752)

pigmentation
• 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 (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 (J:114752)

Mouse Models of Human Disease
OMIM ID Ref(s)
Stargardt Disease 3; STGD3 600110 J:114752


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory