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Phenotypes Associated with This Genotype
Genotype
MGI:4411994
Allelic
Composition
Pde6ccpfl1/Pde6ccpfl1
Genetic
Background
B6.CXB1-Pde6ccpfl1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6ccpfl1 mutation (1 available); any Pde6c mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• 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
• mice exhibit some swollen and pyknotic cells in the inner nuclear layer unlike wild-type mice
• 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

nervous system
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory