Phenotypes Associated with This Genotype

Genotype
MGI:4367266

• Allelic Composition: Rpgrip1^nmf247/Rpgrip1^nmf247
• Genetic Background: C57BL/6J-Rpgrip1^nmf247

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

vision/eye

short photoreceptor inner segment ( J:153721 )

• at P14

absent photoreceptor outer segment ( J:153721 )

• at P7, mice lack an outer segment unlike wild-type mice

• mice rarely develop an outer segment unlike wild-type mice

retina photoreceptor degeneration ( J:153721 )

• rapid and progressive

thin retina outer nuclear layer ( J:153721 )

• at P21, the outer nuclear layer is reduced to 3 to 4 nuclei thickness compared to wild-type mice

retina spots ( J:82238 )

• routine ophthalmoscopic examination of 12 week-old mutants revealed retinal spots

vitreal fibroplasia ( J:82238 )

• routine ophthalomoscopic examination of 12 week-old mutants revealed vitreous fibroplasia

abnormal cone electrophysiology ( J:153721 )

• at P21

abnormal rod electrophysiology ( J:153721 )

• at P21, b-waves amplitudes are reduced compared to in wild-type mice

nervous system

short photoreceptor inner segment ( J:153721 )

• at P14

absent photoreceptor outer segment ( J:153721 )

• at P7, mice lack an outer segment unlike wild-type mice

• mice rarely develop an outer segment unlike wild-type mice

retina photoreceptor degeneration ( J:153721 )

• rapid and progressive

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