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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pde6ccpfl1
cone photoreceptor function loss 1
MGI:2657247
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pde6ccpfl1/Pde6ccpfl1 B6.CXB1-Pde6ccpfl1 MGI:4411994
hm2
Pde6ccpfl1/Pde6ccpfl1 involves: CXB1/ByJ MGI:2657248


Genotype
MGI:4411994
hm1
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 (23 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




Genotype
MGI:2657248
hm2
Allelic
Composition
Pde6ccpfl1/Pde6ccpfl1
Genetic
Background
involves: CXB1/ByJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6ccpfl1 mutation (1 available); any Pde6c mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• no cone mediated photoresponse in electroretinograms

nervous system

Mouse Models of Human Disease
OMIM ID Ref(s)
Achromatopsia 2; ACHM2 216900 J:75095





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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory