Mouse Genome Informatics
hm
    Crxtm1Clc/Crxtm1Clc
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Outer retina microscopy of Crxtm1Clc/Crxtm1Clc mice

vision/eye
• increased concentration and size of horizontal cell neurites which originate from axons
• dendritic trees begin retracting around 5 months
• axons remain normal
• very small in size relative to controls at 7 months of age
• distinctly smaller axons at 1 to 3 months of age
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months
• thin at 3 weeks of age (J:58796)
• 1-3 rows of nuclei at 6 months of age (J:58796)
• 12 rows at 1 month of age (J:88825)
• only 1 row centrally at 7 months of age but 2 rows more peripherally (J:88825)
• photoreceptor terminals are highly disorganized with no well formed rod spherules or cone pedicles
• photoreceptor cells dislocated to just beneath pigment epithelium
• very rarely do connecting cilia emerge from the inner segment by 7 days of age
• connecting cilia are unusually long at later stages
• numerous small vesicles are present, possibly derived from the inner segment
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments
• at 2 to 3 weeks of age
• no electroretinogram activity at 1 month of age
• greater than 90% reduction in activity
• less than 1% of normal rod activity at 1 month of age
• "a" and "b" waves in electroretinogram are absent

behavior/neurological
• although mice continue to be predominantly dark active, dark cycle activity is reduced
• photoentrainment is slower than in controls after a 4 hour advance in the light-dark cycle

nervous system
• increased concentration and size of horizontal cell neurites which originate from axons
• dendritic trees begin retracting around 5 months
• axons remain normal
• very small in size relative to controls at 7 months of age
• distinctly smaller axons at 1 to 3 months of age
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months
• photoreceptor cells dislocated to just beneath pigment epithelium
• very rarely do connecting cilia emerge from the inner segment by 7 days of age
• connecting cilia are unusually long at later stages
• numerous small vesicles are present, possibly derived from the inner segment
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments
• at 2 to 3 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Leber Congenital Amaurosis 7; LCA7 613829 J:58796