Phenotypes Associated with This Genotype

Genotype
MGI:3028001

• Allelic Composition: Pde6b^atrd2/Pde6b^atrd2
• Genetic Background: involves: BALB/cAnN * C3H/HeN

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

vision/eye

abnormal ocular fundus morphology ( J:101336 )

• slight speckling at 3.5 weeks of age

abnormal optic disk morphology ( J:101336 )

• begin to discolor at 6 weeks of age

abnormal retina morphology ( J:101336 )

• patches of pigmented cells and whitening of blood vessels can be seen at 6 weeks of age

thin retina outer nuclear layer ( J:101336 )

• at 6 weeks of age only 1-3 cell layers are present in the peripheral retina

increased susceptibility to age-related retinal degeneration ( J:75964 , J:101336 )

• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6b^rd1 homozygous mice (J:75964)

• develops as mice age, with signs becoming detectable by 6 weeks of age (J:101336)

• onset is later than in Pde6b^rd1 (J:101336)

decreased visual acuity ( J:101336 )

• at 3.5 weeks of age, at least 20% of mice respond to a 2 degree grating and 50% respond to a 4 degree grating in a visual tracking drum assay

• at 6 weeks of age mice respond only to an 8 degree grating

• by 10 weeks of age mice fail to respond in a visual tracking drum assay

blindness ( J:101336 )

• effectively blind by 10 weeks of age

nervous system

abnormal optic disk morphology ( J:101336 )

• begin to discolor at 6 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness autosomal dominant 2		DOID:0110863	OMIM:163500	J:75964
retinitis pigmentosa 40		DOID:0110375	OMIM:613801	J:101336