Mouse Genome Informatics
tg
    Tg(Guca1a*L151F)#Wbae/0
involves: C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• mutants exhibit slowly progressing photoreceptor degeneration (cone-rod dystrophy) that begins to be seen at around 9 months

vision/eye
• mutants exhibit slowly progressing photoreceptor degeneration (cone-rod dystrophy) that begins to be seen at around 9 months
• thinning of the outer nuclear layer starts to be seen by 9 months of age and progresses to a 20% reduction by 1 year of age
• reduction in scotopic (a-wave) ERG amplitude starts to be seen by 9 months of age and is significantly attenuated by 12 months of age
• reduction in photopic (b-wave) ERG amplitude starts to be seen by 9 months of age and is significantly attenuated (40% reduction) by 12 months of age
• optomotry indicates a 15% reduction in visual acuity by 1 year of age

Mouse Models of Human Disease
OMIM IDRef(s)
Cone Dystrophy 3; COD3 602093 J:199392