Mouse Genome Informatics
hm
    Pde6brd10/Pde6brd10
B6.CXB1-Pde6brd10/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• sclerotic retinal vessels are observed at 4 weeks of age
• rod photoreceptor cells start degenerating in the central retina at 16 days of age and in the peripheral retina at 20 days of age
• by 60 days of age no photoreceptors remain
• histological analyses show progressive retinal outer nuclear layer degeneration (ONL) beginning in the center at 16 days of age and spreading to the periphery by 20 days of age
• tauroursodeoxycholic acid slows onset of degeneration of retinal outer nuclear layers and photoreceptors (J:117305)
• clinical abnormalities are observable at 4 weeks of age (J:122722)
• histological analyses show progressive retinal outer nuclear layer degeneration (ONL) beginning in the center at 16 days of age and spreading to the periphery by 20 days of age (J:122722)
• by 60 days of age no ONL remains (J:122722)
• nuclei counts in the ONL over time reflects progressive degeneration; inner nuclear layers are not affected (J:122722)
• dark-reared mice showed no degeneration until 24 days of age with initial nuclei loss apparent at 30 days (J:122722)
• ERG a- and b- wave amplitudes are greater in mice treated with tauroursodeoxycholic acid (J:117305)
• mice showed reduced rod and cone responses under both dark- and light-adapted conditions compared to wild-type (J:122722)
• a small a-wave appeared only at the brightest flash intensity indicating loss of sensitivity in dark-adapted, 30 day old mice (J:122722)
• the loss of cone function was not registered as fast by b-wave response from light-adapted compared to dark-adapted mice (J:122722)

cardiovascular system
• sclerotic retinal vessels are observed at 4 weeks of age

nervous system
• rod photoreceptor cells start degenerating in the central retina at 16 days of age and in the peripheral retina at 20 days of age
• by 60 days of age no photoreceptors remain

Mouse Models of Human Disease
OMIM IDRef(s)
Retinitis Pigmentosa; RP 268000 J:122722