Mouse Genome Informatics
ht
    Elovl4tm1Rayy/Elovl4+
involves: 129 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• display altered levels of long-fatty chain n-3 fatty acids in the retina at 6 months of age
• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age
• 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
• develop progressive photoreceptor degeneration from 2 months of age
• 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
• loss of rod photoreceptors after 10 months of age
• 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
• by 10 months of age, the outer nuclear layer appears thin and contains fewer cells
• the outer plexiform layer contains gaps and exhibits areas surrounding the rod spherules that appear to be empty and lack the extracellular matrix
• 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
• the b-wave amplitudes are higher in the cone-driven light-adapted responses at 8 and 15 months of age

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

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

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

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