Mousea
| Mutation classb
| CRX expressionc
| Rod | Cone | Disease model | Phenotype severitye
|
---|
Functiond
| Degeneration | Functiond
| Degeneration |
---|
WT | NA | + | ++++ | Undetectable | ++++ | Undetectable | NA | NA |
R90W
| I | + | ++++ | Undetectable | ++++ | Undetectable | CoRD | Mild |
E168d2neo
| III | + | +++ | Undetectable | ++ | ≥1 year | CoRD | Moderate |
E168d2
| III | ++ | ++ | 1–6 months | + | 1 month | LCA | Severe |
Rip
| IV | + | - | 1–18 months | - | Undetectable | LCA | Very severe |
-
a Heterozygous mice harboring the indicated Crx mutations [21, 24] are used for phenotype comparisons
-
b Classification described by [14]
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c Grading based on quantitative western blots [21]. Note a twofold increase in E168d2 but normal level in others
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d Grading based on reduction of electroretinography (ERG) peak amplitudes [21]. Dashes indicate undetected ERG signals
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e Severity based on combined morphological and functional deficits
- WT C57BL/6 J wild-type control, NA not applicable