Table 6. Genotype-phenotype correlation in English Springer Spaniels.
|
Phenotype |
RPGRIP1 genotype |
Total number of dogs |
||
|---|---|---|---|---|
|
+/+ |
+/− |
−/− |
||
| Control |
9 (32%) |
17 (61%) |
2 (7%) |
28 |
| PRA |
6 (40%) |
4 (27%) |
5 (33%) |
15 |
| Total | 15 (35%) | 21 (49%) | 7 (16%) | 43 |
The RPGRIP1 insertion genotype was studied in PRA cases and apparently normal controls of the English Springer Spaniel. Although the proportion of RGPRIP1−/− dogs were higher in PRA cases, there was marked genotype-phenotype discordance as seen in RGPRIP1−/− controls and non-RGPRIP1−/− PRA cases. RPGRIP1 genotypes are denoted as follows: wildtype homozygote (+/+); heterozygote (+/−); insertion homozygote (−/−).