Mouse Genome Informatics
hm
    Gucy2etm1Gar/Gucy2etm1Gar
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• by 5 weeks of age, number of identifiable cones is dramatically reduced
• cells degenerate rapidly at 4-5 weeks of age, with few surviving at late stages
• by 1 month of age, electroretinograms (ERG) of mutant mice are abnormal
• at one month of age, cone responses to flashes in rod-saturating background are barely detectable
• rod a-wave and b-wave of ERG are severely reduced at one month of age
• flash response from a rod demonstrates increased time-to-peak before decaying more rapidly than in controls; rods have a higher sensitivity than wild-type
• rods show oscillations during and after recovery from a light flash

nervous system
• by 5 weeks of age, number of identifiable cones is dramatically reduced
• cells degenerate rapidly at 4-5 weeks of age, with few surviving at late stages

Mouse Models of Human Disease
OMIM IDRef(s)
Cone-Rod Dystrophy 6; CORD6 601777 J:77627