| First Author | Karst SY | Year | 2015 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:217147 |
| Mgi Id | MGI:5613189 | Citation | Karst SY, et al. (2015) Flimsy hind leg, a new spontaneous mutation from the Mouse Mutant Resource. MGI Direct Data Submission |
| abstractText | The flimsy hind leg (flim) mutation arose spontaneously in the B6.CB17-Prkdc<scid>/SzJ strain at The Jackson Laboratory. This recessive mutation causes homozygotes to drag one or both hind feet or legs when walking. There is variable expressivity such that some homozygotes clearly display the phenotype at wean age while others have a more mild phenotype with a slightly later presentation. In some homozygotes one hind-leg is more severely impacted than the other or is faster to present the phenotype. Reduced penetrance or premature death have not been observed to date. The Prkdc<scid> mutation was bred out and homozygotes still displayed the same phenotype. No significant lesions were identified in our standard pathological screen of 3 homozygous males, age 7.5 weeks, 9 weeks, and 23.5 weeks. One homozygote assessed at 16 weeks of age had a normal electroretinogram. A mapping cross to FVB/NJ produced no homozygotes in the F1 population, proving this a recessive mutation, SNP analysis was done on twelve affected and twelve unaffected mice in the F2 population and no recombinants were found in the 12 mutants assessed for rs3682381 on Chromosome 2, position 93,981,144 bp, and no recombinants were found in the 10 mutants assessed for rs4223212, on Chromosome 2, position 71,274,980 bp. One mutant showed recombination with both rs3022886, at position 62,645,334 bp, and rs13476474. Significant recombination was found using rs3662211, at position 130,144,955 bp. Thus, flim maps to Chromosome 2 between 62,645,334 bp and 130,144,955 bp (GRCm38.p1). |
