Phenotypes Associated with This Genotype

Genotype
MGI:4950568

• Allelic Composition: Prpf31^tm1.1Bha/Prpf31⁺
• Genetic Background: involves: 129S2/SvPas

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

vision/eye

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 12 months of age

retina degeneration ( J:171561 )

• late onset degeneration of the retinal pigment epithelium

pigmentation

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 11		DOID:0110408	OMIM:600138	J:171561