vision/eye
N |
• normal lamellar formation of the retina at 14 days of age
|
• 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
|
• increased concentration and size of horizontal cell neurites which originate from axons
|
• 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)
|
• loss of outer layer nuclei starting around 1 month
• only 7-9 rows at 1 month compared to about 12 rows in controls
• 2-3 rows at 3 months
• apoptosis at 21 and 35 days of age
|
• 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
(J:58796)
• no outer segment formation at 14 days through 3 months
(J:211011)
|
• no light or dark adapted responses
|
• 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
• 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
|
• increased concentration and size of horizontal cell neurites which originate from axons
|
• 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
(J:58796)
• no outer segment formation at 14 days through 3 months
(J:211011)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Leber congenital amaurosis 7 | DOID:0110333 |
OMIM:613829 |
J:58796 |