Definition
anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors
Synonyms
abnormal retinal pigmentation
0%
of tested genes
0
significant genes
0
tested genes
IMPC Gene variants with abnormal retina pigmentation
Total number of significant genotype-phenotype associations: 19
| Gene / Allele | Zygosity | Sex | Life Stage | Phenotype | Parameter | Phenotyping Center |
P Value |
|---|---|---|---|---|---|---|---|
| Slc9a8 Slc9a8tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Right Retina Pigmentation Ophthalmoscope |
WTSI MGP |
2.06×10-09 | |
| Trnt1 Trnt1tm1a(EUCOMM)Hmgu |
HET | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
4.48×10-07 | |
| Uhrf1 Uhrf1tm1a(EUCOMM)Wtsi |
HET | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
4.48×10-07 | |
| Cadm1 Cadm1tm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI MGP |
2.10×10-06 | |
| Peds1 Peds1tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI MGP |
2.35×10-06 | |
| Asns Asnstm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
MRC Harwell EuroPhenome |
4.77×10-06 | |
| Retreg3 Retreg3tm2a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI EuroPhenome |
5.34×10-06 | |
| Arhgap25 Arhgap25tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left Retina Pigmentation Ophthalmoscope |
WTSI MGP |
6.67×10-06 | |
| Setmar Setmartm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Right Retina Pigmentation Ophthalmoscope |
WTSI EuroPhenome |
7.35×10-06 | |
| Nfya NfyaGt(EUCJ0004f10)Hmgu |
HET | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
1.63×10-05 | |
| Frmd5 Frmd5tm1a(EUCOMM)Hmgu |
HOM | Early adult | abnormal retina pigmentation | Right retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
1.90×10-05 | |
| Epc2 Epc2tm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
4.95×10-05 | |
| Slc30a8 Slc30a8tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Right Retina Pigmentation Ophthalmoscope |
WTSI MGP |
5.96×10-05 | |
| Mysm1 Mysm1tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal retina pigmentation | Left retina pigmentation Indirect ophthalmoscopy |
HMGU EuroPhenome |
8.19×10-05 |