About   Help   FAQ
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 (49 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




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 (49 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
DO ID OMIM ID(s) Ref(s)
achromatopsia DOID:13911 J:75095





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory