Phenotypes Associated with This Genotype

Genotype
MGI:5285951

• Allelic Composition: Ccdc66^{Gt(E021F10)Wrst}/Ccdc66^{Gt(E021F10)Wrst}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

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

vision/eye

thin retina outer nuclear layer ( J:174954 )

• at 3 months of age the outer nuclear layer is reduced to 5-6 layers

• at 5 - 7 months of age only a thin layer remains

abnormal retina photoreceptor layer morphology ( J:174954 )

• at 5 - 7 months of age only a thin layer with severely shrunken photoreceptor segments remains

abnormal photoreceptor inner segment morphology ( J:174954 )

• partially distorted starting at P13

• severely shrunken at 5 -7 months of age

abnormal photoreceptor outer segment morphology ( J:174954 )

• partially distorted starting at P13

• severely shrunken at 5 -7 months of age

abnormal retina rod cell morphology ( J:174954 )

• expression analysis indicates degradation of rod photoreceptors

retina photoreceptor degeneration ( J:174954 )

• slowly progressive degeneration beginning around P13

retina cone cell degeneration ( J:174954 )

retina rod cell degeneration ( J:174954 )

abnormal cone electrophysiology ( J:174954 )

• b-wave amplitude is reduced up to 70% at 1 month of age

• photopic b wave amplitude improves with age, reaching near wild-type levels until 7 months of age

abnormal rod electrophysiology ( J:174954 )

• mean scotopic a-wave amplitude is decreased by up to 54%

nervous system

abnormal photoreceptor inner segment morphology ( J:174954 )

• partially distorted starting at P13

• severely shrunken at 5 -7 months of age

abnormal photoreceptor outer segment morphology ( J:174954 )

• partially distorted starting at P13

• severely shrunken at 5 -7 months of age

abnormal retina rod cell morphology ( J:174954 )

• expression analysis indicates degradation of rod photoreceptors

retina photoreceptor degeneration ( J:174954 )

• slowly progressive degeneration beginning around P13

retina cone cell degeneration ( J:174954 )

retina rod cell degeneration ( J:174954 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:174954