| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:235202 |
| Mgi Id | MGI:5795729 | Citation | Harris BS, et al. (2016) Whirlpool, a new circling mutation on Chromosome 11. MGI Direct Data Submission |
| abstractText | A new autosomal recessive mutation that causes bidirectional circling in homozygotes arose spontaneously in the DBA/1J strain at The Jackson Laboratory and has been named whirlpool (wrpl). Heterozygote x homozygote intercrosses produced 38 pups in 11 litters (average 3.45 pups per litter) of which 11 were found dead and an additional 10 were lost before phenotypic assessment, which is at approximately 3 weeks of age. Only one homozygote was phenotypically identified of these 38 pups. Heterozygous intercrosses averaged 4.18 pups per litter and produced 11 affected progeny out of 71 total mice and had 9 missing before phenotypic assessment (15.5% affected). If the missing and found dead were all presumed homozygous, the yield would be slightly higher than that predicted by Mendelian inheritance in each case, so it is probable that this mutation causes a high rate of pre-wean death in homozygotes. Eye exams of one female and one male homozygote at ten months of age found no defects. 129S1/Sv1mJ females were mated to a male homozygote to map this mutation. F1 progeny were normal and the F2 population included 12 affected out of 266 total born for 4.5% affected mice produced. If the 14 progeny that died before wean age are presumed homozygous the yield would be approximately 10% affected, still much lower than the expected 25% thus suggesting possible in utero lethality. This mutation mapped to Chromosome 11 where Foxi1, Myo15, and Ush1c are candidate genes. |
