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
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 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