Phenotypes Associated with This Genotype

Genotype
MGI:3629046

• Allelic Composition: Cep290^rd16/Cep290^rd16
• Genetic Background: BXD24/TyJ-Cep290^rd16/J

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

vision/eye

photoreceptor outer segment degeneration ( J:108467 )

• degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age

abnormal retina pigment epithelium morphology ( J:108467 )

• large pigment patches appear at 2 months of age

thin retina outer nuclear layer ( J:108467 )

• reduction in thickness of outer nuclear layer in homozygotes is detected as early as 19 days of age and progresses as mice age

retina degeneration ( J:108467 )

• detectable at 1 and 2 months of age

retina spots ( J:108467 )

• retinae of homozygotes develops white retinal vessels at 1 month of age

abnormal cone electrophysiology ( J:108467 )

• electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response

abnormal rod electrophysiology ( J:108467 )

• electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response

pigmentation

abnormal retina pigment epithelium morphology ( J:108467 )

• large pigment patches appear at 2 months of age

nervous system

photoreceptor outer segment degeneration ( J:108467 )

• degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age