Dominant cataract and recessive specific locus mutations in offspring of X-irradiated male mice

Abstract

Male mice were X-irradiated with 3.0 + 3.0 Gy or 5.1 + 5.1 Gy (fractionation interval 24 h). The offspring were screened for dominant cataract and recessive specific locus mutations. In the 3.0 + 3.0-Gy spermatogonial treatment group, 3 dominant cataract mutations were confirmed in 15 551 offspring examined and 29 specific locus mutations were recovered in 18 139 offspring. In the post-spermatogonial treatment group, 1 dominant cataract mutation was obtained in 1120 offspring and 1 recessive specific locus mutation was recovered in 1127 offspring. The induced mutation rate per locus, per gamete, per Gy calculated for recessive specific locus mutations is 2.0 × 10 −5 in post-spermatogonial stages and 3.7 × 10 −5 in spermatogonia. For dominant cataract mutations, assuming 30 loci, the induced mutation rate is 5.0 × 10 −6 in the post-spermatogonial stages and 1.1 × 10 −6 in spermatogonia. In the 5.1 + 5.1-Gy spermatogonial treatment group, 3 dominant cataract mutations were obtained in 11 205 offspring, whereas in 13 201 offspring 27 recessive specific locus mutations were detected in the spermatogonial group. In the post-spermatogonial treatment group no dominant cataract mutation was observed in 425 offspring and 2 recessive specific locus mutations were detected in 445 offspring. The induced mutation rate per locus, gamete and Gy in spermatogonia for recessive specific locus mutations is 2.8 × 10 −5 and for dominant cataract mutations 0.9 × 10 −6. In post-spermatogonial stages, the mutation rate for recessive specific locus alleles is 6.2 × 10 −5. In the concurrent untreated control group, in 11 036 offspring no dominant cataract mutation and in 23 158 offspring no recessive specific locus mutation was observed. Litter size and the number of carriers at weaning have been determined in the confirmation crosses of the obtained dominant cataract mutants as indicators of viability and penetrance effects. Two mutants had a statistically significantly reduced litter size and one mutant had a statistically significantly reduced penetrance.