Mouse Genome Informatics
hm
    Rpgrtm1Tili/Rpgrtm1Tili
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype

Light micrographs of retinal sections of wild-type and Rpgrtm1Tili/Rpgrtm1Tili mice.

vision/eye
• rhodopsins are not appreciably mislocalized but are reduced in the outer segments
• outer segment length is reduced at 6 months of age
• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions
• substantial loss of photoreceptor cells by 6 months
• loss of nearly all cones by 2 years of age
• loss of 2/3 of rods by 2 years of age
• thickness of the outer nuclear layer is reduced at 6 months of age
• retinal degeneration apparently under way by 2 months of age
• reduction in photoreceptor nuclear layer thickness
• newly formed disk membranes are disorganized
• connecting cilia are normal
• retinal function normal at 30 days
• abnormal function appears in conjunction with morphological degeneration

nervous system
• rhodopsins are not appreciably mislocalized but are reduced in the outer segments
• outer segment length is reduced at 6 months of age
• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions
• substantial loss of photoreceptor cells by 6 months
• loss of nearly all cones by 2 years of age
• loss of 2/3 of rods by 2 years of age

Mouse Models of Human Disease
OMIM IDRef(s)
Cone-Rod Dystrophy, X-Linked, 1; CORDX1 304020 J:61371
Retinitis Pigmentosa 3; RP3 300029 J:61371