Phenotypes Associated with This Genotype

Genotype
MGI:6154645

• Allelic Composition: Tg(Rho-GUCY2D*R838S)379Amd/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

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

vision/eye

photoreceptor outer segment degeneration ( J:237633 )

• erosion of the rod outer segments

retina photoreceptor degeneration ( J:237633 )

• decline in rod photoreceptor function coincides with the progressive degeneration of the photoreceptor cell layer

retina rod cell degeneration ( J:237633 )

retina outer nuclear layer degeneration ( J:237633 )

• reduction of the total count of the photoreceptor nuclei in the outer nuclear layer of the retina is seen by 6 weeks of age and rapidly progresses, so that by 3-4 months of age, less than half and by 6 months, only 1/3 of the photoreceptors remain in the retina

decreased a-wave amplitude ( J:237633 )

• the average maximal scotopic a-wave is reduced to half the normal amplitude, but the flash strength producing a half-maximal response is not changed

• at 3-6 months of age, the maximal scotopic a-wave amplitude is suppressed 4-fold

decreased b-wave amplitude ( J:237633 )

• rod-driven scotopic b-wave is reduced in amplitude by 1/3, without a change in half-maximum flash strength

• at 3-6 months of age, the b-wave amplitude is suppressed more than 2-fold

abnormal rod electrophysiology ( J:237633 )

• scotopic ERG in dark-adapted mice exhibit a decline in rod responses as early as 1 month of age

• rod vision further declines between 1 and 3 months of age

• however, cone vision is normal, with normal S-cone and M-cone a-wave and cone b-wave amplitudes

blindness ( J:237633 )

• mice exhibit progressive loss of visual function

nervous system

photoreceptor outer segment degeneration ( J:237633 )

• erosion of the rod outer segments

retina photoreceptor degeneration ( J:237633 )

• decline in rod photoreceptor function coincides with the progressive degeneration of the photoreceptor cell layer

retina rod cell degeneration ( J:237633 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 6		DOID:0111011	OMIM:601777	J:237633