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 Prph Rd2); 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
Chromosome

Mouse
Reference

Human
Chromosome

Human Reference

Retinal ONL
Disappear by

Strains

Pde6brd1
 5
4p16
1
 ABJ/LeJ
BDP/J
BUB/BinJ
C3H and all substrains
CBA/J
CBA/N
FVB/NJ
JGBF/LeJ
MOLD/RkJ
MOLF/EiJ
NFS/N
NON/LtJ
P/J
PL/J
RSV/LeJ
SB/LeJ
SF/CamEi
SF/CamRk
SK/CamEi
ST/bJ
SJL/J
SWR/J
WB/ReJ
WC/ReJ
mnd 8
8p or 13q
6 B6.KB2- mnd /Msr
nr
 8
8p or 13q
10
 BALB/cGr-nr
C3Fe.CGr-nr
pcd
 13
5q
13
 B6.BR-pcd
B6C3Fe-a/a-pcd/+
BALB/cByJ-pcd3J
Prph2Rd2 17
6p
12 O20/A
C3.BliA-Prph2Rd2
Rd3rd3 1
1q32
4 RBF/DnJ
Rb4Bnr/DnJ
RBJ/DnJ
IN30/Rk
Rd4 4
1p36
2 In56Rk-Rd4
rd5 7
11p15
8 C57BL/6J-tub
rd6 9
11q23
24 C57BL/6J-rd6
rd7 9
15q23
30 77-2C2a-special
C57BL/6J-rd7
Rd9 X
X21.1
30 C57BL/6J-Rd9
Pde6brd10 5
4p16
2 C57BL/6J- Pde6brd10
CXB1- Pde6brd10
Vitiligo 6
3p14
10 C57BL/6J-Mitfmi-vit
cpfl1 19
10q25
30 C57BL/6J-cpfl1
CXB1-cpfl1
nclf 9
15q21
13 B6.Cg-nclf
STOCK-a/a +J/+ nclf/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 to Mitfmi, 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