| First Author | Harris BS | Year | 2017 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:243755 |
| Mgi Id | MGI:5912199 | Citation | Harris BS, et al. (2017) Deformed tail, a spontaneous mutation that maps to Chromosome 5. MGI Direct Data Submission |
| abstractText | The mutation deformed tail (dft) arose spontaneously and was identified in an F2 male from an F1 intercross of FVB/NJ with a C57BL/6J-Hr<rh-10J>/GrsrJ homozygote. Deformed tail homozygotes have tail kinks, with variability in the number of kinks and variable shortening of the tail length. In the most severe cases the tail is only a short stub. The overall size of the homozygote may be slightly smaller than its littermate controls. The original mutant male was bred to a C57BL/6J female and all progeny were unaffected. These were sibling intercrossed and the phenotype appeared in the F2 generation, proving this mutation recessive. This mutant subline was maintained thereafter by sibling intercrossing and the wrinkled skin and hairless phenotype of rhino 10 Jackson were not seen in any generation. Thirteen heterozygote x homozygote or homozygote x heterozygote crosses produced 150 pups in 37 litters (averaging 4 pups per litter) with 34 affected mice (22.7%), which is less than half of the expected 50%. Five heterozygous intercrosses averaged five pups per litter and produced 20 affected progeny out of 150 total mice (13.3% affected), which is also almost half of what is predicted for this mating scheme. There was not an abnormally high number of pups lost before wean age. With the small average litter size and deviation from the expected Mendelian ratio it seems likely that this mutation causes a high rate of in utero death in homozygotes. Four crosses of homozygotes with heterozygotes, two using male homozygotes and two using female homozygotes, produced no progeny. To map this mutation 129S1/Sv1mJ females were mated to a homozygous male, which produced all normal F1 progeny then 12 affected out of 63 total born (19% affected) in the F2 population, again fewer than expected despite the hybrid background. Nine F2 mutants were used to map this mutation, and multiple markers on distal Chromosome 5 demonstrated linkage to the phenotype. rs3657931 at 96,428,065 bp, rs3726156 at 110,168,243 bp, rs3664741 at 125,025,490 bp, and rs3711809 at 142,885,577 bp (GRCm38.p4) each had a LOD score over 3, with rs3664741, having the highest LOD score of 7.1 and only 1 of 9 mutants being recombinant at this marker, a recombination frequency of 11%. Candidate genes include Kntc1 and Lfng. |
