Phenotypes Associated with This Genotype

Genotype
MGI:3715440

• Allelic Composition: Rd3^rd3/Rd3^rd3
• Genetic Background: RBF/DnJ-Rd3^rd3

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

vision/eye

thin retina outer nuclear layer ( J:4367 )

• after 3 weeks, the outer nuclear layer is reduced

• however, mice have normal eye morphology prior to 3 weeks

abnormal retina photoreceptor layer morphology ( J:4367 )

• after 3 weeks, the photoreceptor layer is reduced

• however, mice have normal eye morphology prior to 3 weeks

absent retina rod cells ( J:4367 )

• at 4 weeks rods are no longer detected

retina photoreceptor degeneration ( J:4367 )

• by 8 weeks no photoreceptors are present

abnormal eye electrophysiology ( J:4367 )

• at week 4, the b-wave amplitude is 25% of that in wild-type mice

• by 6 weeks, a signal is barely detectable even with the brightest stimuli

nervous system

absent retina rod cells ( J:4367 )

• at 4 weeks rods are no longer detected

retina photoreceptor degeneration ( J:4367 )

• by 8 weeks no photoreceptors are present

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 12		DOID:0110080	OMIM:610612	J:202634