| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:237551 |
| Mgi Id | MGI:5812893 | Citation | Harris BS, et al. (2016) The spontaneous mouse mutation variable tail abnormalities (vtab). MGI Direct Data Submission |
| abstractText | A recessive mutation that causes variable tail kinks and bends arose spontaneously in the CByJ.A-Ttc7<sup>fsn</sup>/J strain at The Jackson Laboratory. The flaky skin mutation (Ttc7<sup>fsn</sup>) was bred away from this mutant subline prior to analysis. Homozygotes show a variety of tail kinks or bends with variable expressivity. Ocular phenotyping and ABR analysis on two male homozygotes and two female controls at three months of age found no defects in the eyes or hearing. Histological screening of two 28-week-old homozygotes showed segmental tubular degeneration and atrophy in the testes, reduced spermiogenesis and evidence of germ cell depletion. Consistent with diminished spermiogenesis, one in vitro fertilization attempt using one homozygous male failed to fertilize any BALB/cByJ oocytes. Eighteen litters from homozygote x heterozygote intercrosses yielded 8 affected mice in seventy-six total offspring for an average litter size of 4.22 pups per litter and a mutant yield of 10.9%, much less than the 50% predicted by Mendelian inheritance. One hundred thirteen litters from heterozygote x heterozygote intercrosses yielded fifty affected pups out of 558 total offspring, with 6 born dead and 6 missing prior to phenotypic assessment at approximately three weeks of age, for an average of 4.94 pups per litter and a yield of fewer than 9% surviving mutants (11% mutants if the missing and born dead are all assumed homozygous), far fewer than the 25% predicted by Mendelian inheritance. A mapping cross to CAST/EiJ produced only 12 mutants out of 119 F2 pups born, and the preliminary results from these 12 pups map this mutation to the distal half of Chromosome 11. |
