Heterozygotes have a kinked tail and the tail length varies with the amount and severity of kinking in the tail. There are fewer than expected mutants generated from a heterozygote x C57BL/6J or C57BL/6J x heterozygote cross, most likely indicative of embryonic lethality, but possibly due to incomplete penetrance. Heterozygotes are fertile and live a normal lifespan.
Axin2M1J was first identified as a dominant tail kink phenotype in progeny of an ENU-treated male, which was a C57BL/6 subline mix homozygous for Crb1rd8. 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 Crb1rd8 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. This mutant strain reached generation N7 to C57BL/6J in 2014 and by statistical probability the Crb1rd8 allele is believed to be bred out.
|Allele Name||mutation 1, Jackson|
|Allele Type||Chemically induced (ENU) (Not Specified)|
|Gene Symbol and Name||Axin2, axin 2|
|Strain of Origin||C57BL/6J|
|Molecular Note||This ENU induced T-to-A transversion at Chr11 position 108,942,634 bp (GRCm38) results in the nonsense mutation Y548*.|