Phenotypes Associated with This Genotype

Genotype
MGI:7643893

• Allelic Composition: rd24/rd24
• Genetic Background: B6.NOD(Cg)-rd24/BocJ

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

vision/eye

retina photoreceptor degeneration ( J:348730 )

• By 4 months of age there is 60% photoreceptor loss, although at 1 month of age the fundus and OCT appear normal

retina rod cell degeneration ( J:348730 )

• no rod ERG a-wave by 1 month of age and attenuated b-wave at 1 month of age

abnormal electroretinogram waveform feature ( J:348730 )

• rod-derived ERG a-wave is absent and b-wave attenuated at 1 month of age, and cone-derived ERG slightly decreased at 1 month of age, but by 12 months of age there are no detectable ERG responses

decreased a-wave amplitude ( J:348730 )

decreased b-wave amplitude ( J:348730 )

nervous system

retina photoreceptor degeneration ( J:348730 )

• By 4 months of age there is 60% photoreceptor loss, although at 1 month of age the fundus and OCT appear normal

retina rod cell degeneration ( J:348730 )

• no rod ERG a-wave by 1 month of age and attenuated b-wave at 1 month of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 49		DOID:0110377	OMIM:613756	J:348730