Retinal degeneration genes
Mouse models of retinal degeneration have been investigated for many years in the hope of understanding the causes of photoreceptor cell death. 16 naturally occurring mouse mutants that manifest degeneration of photoreceptors in the retina with preservation of all other retinal cell types have been found: retinal degeneration (formerly rd , identical with rodless retina, r, now Pde6b rd1); Purkinje cell degeneration (pcd); nervous (nr); retinal degeneration slow (rds, now PrphRd2); retinal degeneration 3 (rd3 ); motor neuron degeneration (mnd); retinal degeneration 4 (Rd4 ); retinal degeneration 5 (rd5); vitiligo (vit , now Mitf mi-vit); retinal degeneration 6 (rd6 ); retinal degeneration 7 (rd7); neuronal ceroid lipofuscinosis ( nclf ); retinal degeneration 8 (rd8 ); retinal degeneration 9 ( Rd9 ); retinal degeneration 10 (rd10); and cone photoreceptor function loss (cpfl1).
|
Gene |
Mouse |
Mouse |
Human |
Human Reference |
Retinal ONL |
Strains |
|---|---|---|---|---|---|---|
|
5 |
4p16 |
1 |
ABJ/LeJ |
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|
8 |
8p or 13q |
6 |
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|
8 |
8p or 13q |
10 |
BALB/cGr-nr |
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|
13 |
5q |
13 |
B6.BR-pcd |
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|
17 |
6p |
12 |
O20/A |
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|
Rd3rd3 |
1 |
1q32 |
4 |
RBF/DnJ |
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|
4 |
1p36 |
2 |
In56Rk-Rd4 |
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|
7 |
11p15 |
8 |
C57BL/6J-tub |
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|
9 |
11q23 |
24 |
C57BL/6J-rd6 |
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|
9 |
15q23 |
30 |
77-2C2a-special |
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|
X |
X21.1 |
30 |
C57BL/6J-Rd9 |
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|
Pde6brd10 |
5 |
4p16 |
2 |
C57BL/6J- Pde6brd10 |
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|
6 |
3p14 |
10 |
C57BL/6J-Mitfmi-vit |
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|
19 |
10q25 |
30 |
C57BL/6J-cpfl1 |
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|
9 |
15q21 |
13 |
B6.Cg-nclf |
New mouse models of retinal disorders for which chromosomal locations have been established
|
Gene (or Strain) |
Phenotype description |
Gene location |
|---|---|---|
|
Nm2621 |
Mice of an imported stock show severe retinal pigment loss. Mutation is allelic toMitfmi, AD |
Chrom 6 |
|
C57BL/6-rp53 |
Abnormal retinal layers, extra tissue and vessels in posterior chamber, AR |
Chrom 11 |
|
C57BL/6-Zfatm1Ems |
Zinc finger gene (Zfa) knockout, no retinal vessels and no ERG response, AR |
Chrom 10 |
|
rd11 |
retinal degeneration starts at 1 month of age, AR |
Chrom 13 |
|
nm2411 |
retinoschisis, AR |
Chrom 15 |
|
nm2842 |
missing retinal outer plexiform layer, XR |
Chrom X |
|
rd12 |
white spots in retina at 4 months, abnormal ERG at 3 weeks, AR |
Chrom 3 |
|
NM3341 |
White retinal spots start at 3 months old, ERG shows bad cones, histology shows a "wavy" ONL, AD |
Chrom 3 |
|
nm 3342 |
recessive, blotchy spotted retina, when combined with rd1 it produces retinal detachments, AR |
Chrom 5 |
|
nm3319 |
mice develop retinal spots and CNV, AR |
Chrom 19 |
|
nm3344 |
recessive retinal degeneration, AR |
Chrom 13 |
|
NM2641 |
Dominant optic nerve coloboma, may be mutation in Pax2, AD |
Chrom 19 |
|
AD= autosomal dominant, AR= autosomal recessive, XD= X-linked Dominant, XR= X-linked recessive |
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