| First Author | Harris BS | Year | 2015 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:223644 |
| Mgi Id | MGI:5659865 | Citation | Harris BS, et al. (2015) An Axin2 point mutation that causes tail kinks. MGI Direct Data Submission |
| abstractText | Axin2<M1J> was first identified as a dominant tail kink phenotype in progeny of an ENU-treated male, which was a C57BL/6 substrain mix homozygous for Crb1<rd8>. SNP analysis of this mixed line showed that it was approximately 75% C57BL/6J and 25% C57BL/6N. The tail kink phenotype was identified in the offspring of the ENU mutagenized male bred to the same homozygous Crb1<rd8> mixed C57BL/6 line, and subsequently backcrossed to this same line to N5 before being transferred to the Mouse Mutant Resource where it was maintained by continuous backcross to C57BL/6J. Heterozygotes have a noticeably kinked tail and the tail length varies with the amount of kinking of the tail. The heterozygotes of both sexes are fertile and live a normal lifespan but the percentage of heterozygotes generated from either male or female heterozygotes bred to an inbred is less than expected for Mendelian inheritance indicating embryonic lethality or incomplete penetrance. Of 83 offspring produced by outcross to FVB/NJ only 13 were mutant (15.7%), and of 91 offspring produced by backcross from a mixed B6;FVB background to C57BL/6J only 33 were mutant (36.3%), far less than the 50% expected. Histological assessment of 3 heterozygotes at 12 weeks of age found no additional abnormalities. After outcrossing to FVB/NJ mutant offspring were backcrossed to C57BL/6J and the resultant mutant and wild-type offspring were used to map this mutation to Chromosome 11 between rs3687284 at Chr 11 position 103,389,294 bp and rs3675087 at Chr 11 position 116,315,626 bp (GRCm38.p1). Exome sequencing identified a unique T to A transversion at Chr 11 position 108,942,634, which is predicted to result in the nonsense mutation Y548* in Axin2. |
