Mouse Genome Informatics
tg
    Tg(Rho-GUCA1A*Y99C)L53Amd/0
involves: C57BL/6 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• by 6 months of age, both rods and cones are absent
• as early as 3 weeks of age
• by 6 months of age only a few photoreceptor nuclei remaining
• calcium sensitivity of guanylyl cyclase in photoreceptors is shifted compared to in wild-type photoreceptors
• in darkness, rod outer segment calcium levels are higher than in wild-type cells
• at 6 months, cone-driven b-wave is suppressed compared to in wild-type mice
• at 5 to 7 months, the dark-adapted corneal negative a-wave is absent unlike in wild-type mice
• the average singe photon response is 1.8-fold larger and peaks later than in similarly treated wild-type rods

nervous system
• by 6 months of age, both rods and cones are absent
• as early as 3 weeks of age
• by 6 months of age only a few photoreceptor nuclei remaining

Mouse Models of Human Disease
OMIM IDRef(s)
Cone Dystrophy 3; COD3 602093 J:157063