Phenotypes Associated with This Genotype

Genotype
MGI:5660492

• Allelic Composition: Spata7^tm1Mrd/Spata7^tm1Mrd
• Genetic Background: involves: 129S7/SvEvBrd

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

vision/eye

abnormal retina cone cell morphology ( J:216279 )

• disorganized at P40

abnormal retina rod cell morphology ( J:216279 )

• disorganized at P40

retina photoreceptor degeneration ( J:216279 )

retina cone cell degeneration ( J:216279 )

• substantially slower rate of degeneration than in rods

retina rod cell degeneration ( J:216279 )

• severe

thin retina outer nuclear layer ( J:216279 )

• by P15 with a further reduction by P29 to 50% of wild-type thickness

• at 6 months of age the ONL is 30-40% of wild-type thickness

abnormal cone electrophysiology ( J:216279 )

• a slight age-dependent decrease in the double-flash B-wave

abnormal rod electrophysiology ( J:216279 )

• decline in scotopic A-wave amplitude by P15 that becomes more pronounced with age

• by P60 the A-wave amplitude is only 20% that of wild-type controls

• decline in the scotopic B-wave amplitude is first detected at about 2 months of age

• the A-wave amplitude is almost undetectable at 12 months of age

nervous system

abnormal retina cone cell morphology ( J:216279 )

• disorganized at P40

abnormal retina rod cell morphology ( J:216279 )

• disorganized at P40

retina photoreceptor degeneration ( J:216279 )

retina cone cell degeneration ( J:216279 )

• substantially slower rate of degeneration than in rods

retina rod cell degeneration ( J:216279 )

• severe

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 3		DOID:0110331	OMIM:604232	J:216279