vision/eye
|
• at P35 rod appear swollen and nonuniform in shape with expanded and constricted regions consistent with the elongated disks
|
|
• at P18 - P24 outer segments are shorter, often bent and less rigid compared to wild-type controls
• at P20 outer segments appear misaligned and abnormal elongation of the disks is seen
• at P60 outer segments contain elongated membranous material that most likely originates from the disks
• by 3 - 4 months of age rod outer segments are lost due to progressive degeneration
|
|
• complete loss of the photoreceptor layer by 1 year of age
|
|
• rods have smaller circulating currents and are less sensitive to light stimulation compared to wild-type controls
|
growth/size
| N |
• unlike mice homozygous for Cngb1tm1.1Biel, body weight is similar to controls
(J:150504)
|
nervous system
|
• at P35 rod appear swollen and nonuniform in shape with expanded and constricted regions consistent with the elongated disks
|
|
• at P18 - P24 outer segments are shorter, often bent and less rigid compared to wild-type controls
• at P20 outer segments appear misaligned and abnormal elongation of the disks is seen
• at P60 outer segments contain elongated membranous material that most likely originates from the disks
• by 3 - 4 months of age rod outer segments are lost due to progressive degeneration
|
|
• complete loss of the photoreceptor layer by 1 year of age
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Retinitis Pigmentosa; RP | 268000 | J:150504 | |
