Phenotypes Associated with This Genotype

Genotype
MGI:4411994

• Allelic Composition: Pde6c^cpfl1/Pde6c^cpfl1
• Genetic Background: B6.CXB1-Pde6c^cpfl1

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

vision/eye

decreased retina cone cell number ( J:154763 )

• as early as 3 weeks of age, mice exhibit vacuolization of a subset of cells in the photoreceptor layer with rapid progressive depletion of cone photoreceptors unlike wild-type mice

• only a few cones are observed at 5 months

retina cone cell degeneration ( J:154763 )

• cone numbers decrease as early as 3 weeks of age and only a few cones are observed at 5 months unlike in wild-type mice

abnormal retina inner nuclear layer morphology ( J:154763 )

• mice exhibit some swollen and pyknotic cells in the inner nuclear layer unlike wild-type mice

abnormal eye electrophysiology ( J:111892 )

• at 6 weeks of age the dark-adapted electroretinogram is sub-normal and the light-adapted electroretinogram is extinguished

• at higher intensities the b-wave amplitude plateaus abnormally instead of continuing to increase

abnormal cone electrophysiology ( J:111892 )

nervous system

decreased retina cone cell number ( J:154763 )

• as early as 3 weeks of age, mice exhibit vacuolization of a subset of cells in the photoreceptor layer with rapid progressive depletion of cone photoreceptors unlike wild-type mice

• only a few cones are observed at 5 months

retina cone cell degeneration ( J:154763 )

• cone numbers decrease as early as 3 weeks of age and only a few cones are observed at 5 months unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achromatopsia		DOID:13911		J:154763