Phenotypes Associated with This Genotype

Genotype
MGI:3581037

• Allelic Composition: Crb1^rd8/Crb1^rd8
• Genetic Background: STOCK Crb1^rd8/J

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

vision/eye

abnormal ocular fundus morphology ( J:85459 )

• mice exhibit large, irregularly shaped spots concentrated in the inferior nasal quadrant of the fundus as early as week 3 that correspond to retinal folds and pseudorosettes

abnormal retina morphology ( J:85459 )

• retinal thinning in both the inner and outer segment is observed

abnormal Muller cell morphology ( J:85459 )

• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice

abnormal retina photoreceptor morphology ( J:85459 )

• the photoreceptor lamellae breaks down

decreased retina photoreceptor cell number ( J:85459 )

• in the region of focal degeneration photoreceptors are lost

abnormal photoreceptor inner segment morphology ( J:85459 )

• the photoreceptor inner segments lose their orderly arrangement

• by 5 months the inner segment approaches the retinal pigment epithelium

• swelling occurs in portions of the inner segments

short photoreceptor inner segment ( J:85459 )

• at 4 weeks the photoreceptor inner segments are 25% shorter

short photoreceptor outer segment ( J:85459 )

• the photoreceptor outer segments are shortened

photoreceptor outer segment degeneration ( J:85459 )

• by week 10 the outer segment begins to fragment

• by 5 months only a few outer segment fragments remain

thin retina outer nuclear layer ( J:85459 )

• in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei

abnormal retina outer limiting membrane morphology ( J:85459 )

• the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks

nervous system

abnormal Muller cell morphology ( J:85459 )

• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice

abnormal retina photoreceptor morphology ( J:85459 )

• the photoreceptor lamellae breaks down

decreased retina photoreceptor cell number ( J:85459 )

• in the region of focal degeneration photoreceptors are lost

abnormal photoreceptor inner segment morphology ( J:85459 )

• the photoreceptor inner segments lose their orderly arrangement

• by 5 months the inner segment approaches the retinal pigment epithelium

• swelling occurs in portions of the inner segments

short photoreceptor inner segment ( J:85459 )

• at 4 weeks the photoreceptor inner segments are 25% shorter

short photoreceptor outer segment ( J:85459 )

• the photoreceptor outer segments are shortened

photoreceptor outer segment degeneration ( J:85459 )

• by week 10 the outer segment begins to fragment

• by 5 months only a few outer segment fragments remain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 8		DOID:0110079	OMIM:613835	J:171736