Phenotypes Associated with This Genotype

Genotype
MGI:6154646

• Allelic Composition: Tg(Rho-GUCY2D*R838S)362Amd/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

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

vision/eye

retina rod cell degeneration ( J:237633 )

• massive death of rods

retina outer nuclear layer degeneration ( J:237633 )

• less than 20% of photoreceptor nuclei remain in the outer nuclear layer after 3 months of age and less than 6% are identified in the single remaining incomplete row of the nuclei after 5 months of age

retina degeneration ( J:237633 )

• massive death of rods eventually provokes the secondary loss of cones as virtually no ERG responses are detected after 5 months of age

decreased a-wave amplitude ( J:237633 )

• amplitude of scotopic ERG a-wave becomes negligible at 3.5 months of age

decreased b-wave amplitude ( J:237633 )

• the b-wave is rudimentary at 3.5 months of age

abnormal rod electrophysiology ( J:237633 )

• mice exhibit a severe loss of rod function

blindness ( J:237633 )

• mice exhibit progressive loss of visual function

nervous system

retina rod cell degeneration ( J:237633 )

• massive death of rods

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