| First Author | Karst SY | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:213841 |
| Mgi Id | MGI:5586729 | Citation | Karst SY, et al. (2014) abnormal hind leg, a new spontaneous mutation. MGI Direct Data Submission |
| abstractText | A spontaneous recessive mutation we have named abnormal hind leg, ahlg, was discovered by Deanna Surette in a mouse colony of NOD.CB17-Prkdc<scid>/J at The Jackson Laboratory. Homozygotes are approximately 25% smaller than normal littermates by 1 to 3 weeks of age. At 8-12 weeks of age homozygotes do not fully splay their hind legs when lifted by the tail, but instead clasp them closer to their body. This phenotype has variable expressivity. Histology of one male homozygote at 22 weeks of age compared to a wildtype female sibling showed thinner growth plates of the tibia and femur and the columns of chondrocytes were somewhat disorganized. There is no indication of shortened lifespan and female homozygotes will generally breed, but to date males have failed to breed. Mutant animals were outcrossed to C57BL/6J mice to establish heritability and no affected mice were found in the F1 generation, but intercrossing unaffected F1 animals produced affected F2 animals, indicating a recessive mode of inheritance. SNP analysis of this mapping cross with C57BL/6J showed complete concordance of 10 homozygotes with rs3654821 indicating strong linkage to this marker and the mutation was mapped to an interval between rs3724682 at Chromosome 13 position 47,314,625 bp and rs13481910 at Chromosome 13 position 83,020,967 (GRCm38.p1). |
