Phenotypes Associated with This Genotype

Genotype
MGI:5924950

• Allelic Composition: Rpgrip1^tvrm111/Rpgrip1^tvrm111
• Genetic Background: C57BL/6J-Rpgrip1^tvrm111/Pjn

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

vision/eye

disorganized photoreceptor outer segment ( J:243745 )

• fully mature photoreceptor outer segments form, but disorganized arrangement of the outer segment discs is seen at 14 days of age by transmission electron micrographs

increased susceptibility to age-related retinal degeneration ( J:243745 )

• fundus images are normal at 1 month of age but at 6 months of age individual retinal pigment epithelial cells can be discerned

• the rate of retinal degeneration is slower than in nmf247 homozygotes and more like that of tm1Tili homozygotes with the outer nuclear layer reduced to 3 to 4 nuclei at 3 months of age

abnormal electroretinogram waveform feature ( J:243745 )

• by one month of age there is a decrease in both dark- and light-adapted ERG responses and this is more severe at 6 months of age

decreased a-wave amplitude ( J:243745 )

decreased b-wave amplitude ( J:243745 )

nervous system

disorganized photoreceptor outer segment ( J:243745 )

• fully mature photoreceptor outer segments form, but disorganized arrangement of the outer segment discs is seen at 14 days of age by transmission electron micrographs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 6		DOID:0110329	OMIM:613826	J:243745