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Table 2 Genotype frequencies for the RP1 frameshift variant among 23 Normande founder bulls and 28 animals reported to ONAB for loss of vision

From: A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds

Genotype frequencies Normande bulls in the 1000 bull genomes dataset (n = 23) Loss of vision phenotype (n = 28)
Fs/Fs 8.7 % (n = 2) 50.0 % (n = 14)
Fs/Wt 43.5 % (n = 10) 35.7 % (n = 10)
Wt/Wt 47.8 % (n = 11) 14.3 % (n = 4)
  1. Genotype frequencies calculated from the 23 Normande bulls available in run4 of the 1000 bull genomes project and from 28 cows declared to ONAB for loss of vision
  2. ONAB French National Observatory of Bovine genetic Abnormalities, Fs frameshift allele, Wt wild type allele
  3. The number of homozygous carriers (Fs/Fs) among affected animals is significantly larger than among the sequenced bulls (Chi2-test p value = 0.00226)