Table 6 of Miyadera, Mol Vis 2009; 15:2287-2305.

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 (−/−).

Miyadera, Mol Vis 2009; 15:2287-2305. http://www.molvis.org/molvis/v15/a246

©2009 Molecular Vision http://www.molvis.org/molvis/

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