Phenotypes Associated with This Genotype

Genotype
MGI:5621021

• Allelic Composition: Aipl1^tm1Visu/Aipl1^tm1Visu; Tg(Crx-AIPL1*P351)#Visu/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

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

nervous system

retina photoreceptor degeneration ( J:218096 )

• progressive degeneration of photoreceptors

retina cone cell degeneration ( J:218096 )

• by P70, a decrease in cone cell number is seen with 40-50% loss and nearly complete cone cell loss is seen at P125

vision/eye

retina photoreceptor degeneration ( J:218096 )

• progressive degeneration of photoreceptors

retina cone cell degeneration ( J:218096 )

• by P70, a decrease in cone cell number is seen with 40-50% loss and nearly complete cone cell loss is seen at P125

thin retina outer nuclear layer ( J:218096 )

• by P70, a decrease in the outer nuclear layer thickness is seen, with a loss of 4-5 cell layers

• outer nuclear layer thickness in the peripheral retina is decreased with loss of about 43% of outer nuclei at P125, however outer nuclear layer thickness is stable in the central retina between P70 and P125

abnormal cone electrophysiology ( J:218096 )

• mice show reduced photopic, cone-mediated ERG responses with about 30-40% of ERG responses from controls at P15

• mice show a rapid decline in photopic cone-mediated ERG responses decreasing to about 10% of control levels by P60

abnormal rod electrophysiology ( J:218096 )

• mice show reduced scotopic, rod-mediated ERG responses to about 50-70% of ERG responses of controls, with greater reduction at lower flash intensities, at P15

• rods exhibit a higher half-saturating light intensity, indicating reduced sensitivity

• scotopic, rod-mediated ERG responses decrease at a much slower rate, with the largest decline seen between P60 and P90

decreased visual acuity ( J:218096 )

• at P30, mice show lower threshold spatial frequencies of the gratings that elicit an optokinetic response than controls under photopic conditions, which worsens at P60, indicating lower visual acuity

• mice sow a trend toward lower visual acuity under scotopic conditions, with significantly lower spatial frequencies under 3 of 5 scotopic background light intensities at P30 and by P60, visual behavior is lowered under all scotopic light intensities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy		DOID:0050572		J:218096