Mouse Genome Informatics
hm1
    Pde6ccpfl1/Pde6ccpfl1
B6.CXB1-Pde6ccpfl1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 Genome Informatics
hm2
    Pde6ccpfl1/Pde6ccpfl1
involves: CXB1/ByJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• no cone mediated photoresponse in electroretinograms

nervous system

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