vision/eye
| N |
• Background Sensitivity: mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background
(J:85459)
|
|
hm1
|
Crb1rd8/Crb1rd8
B6.Cg-Crb1rd8 |
|
|||||||||||||||||
| N |
• Background Sensitivity: mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background
(J:85459)
|
|
hm2
|
Crb1rd8/Crb1rd8
involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ |
|
|||||||||||||||||
|
• Background Sensitivity: 19% of mice do not display the spotting phenotype on a CAST/EiJ mixed background
|
|
hm3
|
Crb1rd8/Crb1rd8
involves: C57BL/6N |
|
|||||||||||||||||
|
• retinal pigment epithelium vacuolation
|
|
• nonimflammatory retinal degeneration is observed in the inner and outer nuclear layers, the outer plexiform layer and photoreceptor outer segments
• appearance of retinal lesions or spots is variable
• fundus lesions(spots) coalesce to form diffuse lesions or large patches and are visible by histological examination as early as 6 weeks of age
|
|
• retinal pigment epithelium vacuolation
|
|
hm4
|
Crb1rd8/Crb1rd8
STOCK Crb1rd8/J |
|
|||||||||||||||||
|
• mice exhibit large, irregularly shaped spots concentrated in the inferior nasal quadrant of the fundus as early as week 3 that correspond to retinal folds and pseudorosettes
|
|
• retinal thinning in both the inner and outer segment is observed
|
|
• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice
|
|
• the photoreceptor lamellae breaks down
|
|
• in the region of focal degeneration photoreceptors are lost
|
|
• the photoreceptor inner segments lose their orderly arrangement
• by 5 months the inner segment approaches the retinal pigment epithelium
• swelling occurs in portions of the inner segments
|
|
• at 4 weeks the photoreceptor inner segments are 25% shorter
|
|
• by week 10 the outer segment begins to fragment
• by 5 months only a few outer segment fragments remain
|
|
• the photoreceptor outer segments are shortened
|
|
• the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks
|
|
• in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei
|
|
• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice
|
|
• the photoreceptor lamellae breaks down
|
|
• in the region of focal degeneration photoreceptors are lost
|
|
• the photoreceptor inner segments lose their orderly arrangement
• by 5 months the inner segment approaches the retinal pigment epithelium
• swelling occurs in portions of the inner segments
|
|
• at 4 weeks the photoreceptor inner segments are 25% shorter
|
|
• by week 10 the outer segment begins to fragment
• by 5 months only a few outer segment fragments remain
|
|
• the photoreceptor outer segments are shortened
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Leber Congenital Amaurosis 8; LCA8 | 613835 | J:171736 | |