Phenotypes Associated with This Genotype

Genotype
MGI:5572940

• Allelic Composition: Rpe65^450L/Rpe65^450L; Whrn^wi/Whrn^wi
• Genetic Background: 129.Cg(B6)-Whrn^wi

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

nervous system

abnormal retina rod cell inner segment morphology ( J:210386 )

• rhodopsin is mislocalized in rod inner segments

retina photoreceptor degeneration ( J:210386 )

• mice are more susceptible to continuous moderate light exposure induced photoreceptor degeneration than controls, showing on average a 25% reduction in the number of photoreceptors after a 6 day moderate 2500 lux light exposure

• mice reared under a 1500 lux light/dark cycle develop severe photoreceptor degeneration

• however, mice do not develop retinal degeneration when reared under normal conditions

• mice exposed to one hour 2000 lux light and then dark adapted for another 7 hours in repeated cycles for 2 weeks exhibit severe photoreceptor degeneration, to a similar extent that is seen with continuous (6 day) light exposure

vision/eye

abnormal retina rod cell inner segment morphology ( J:210386 )

• rhodopsin is mislocalized in rod inner segments

retina photoreceptor degeneration ( J:210386 )

• mice are more susceptible to continuous moderate light exposure induced photoreceptor degeneration than controls, showing on average a 25% reduction in the number of photoreceptors after a 6 day moderate 2500 lux light exposure

• mice reared under a 1500 lux light/dark cycle develop severe photoreceptor degeneration

• however, mice do not develop retinal degeneration when reared under normal conditions

• mice exposed to one hour 2000 lux light and then dark adapted for another 7 hours in repeated cycles for 2 weeks exhibit severe photoreceptor degeneration, to a similar extent that is seen with continuous (6 day) light exposure

abnormal eye physiology ( J:210386 )

• photoreceptors show delayed light-activated rod transducing translocation and its activation threshold is shifted to a higher level

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 2D		DOID:0110840	OMIM:611383	J:210386