Mice heterozygous for the Col2a1M3J/GrsrJ mutation have a shortened nose.
The Col2a1M3J mutation arose spontaneously on the C57BL/6J-KitW-v/J strain at The Jackson Laboratory in 2010. This mutant subline was backcrossed once to C57BL/6J and subsequently maintained by inbreeding heterozygotes with wild type siblings. In 2011 sperm was cryopreserved from heterozygous males at generation N1F2.
|Allele Name||mutation 3 Jackson|
|Gene Symbol and Name||Col2a1, collagen, type II, alpha 1|
|Strain of Origin||C57BL/6J-KitW-v/J|
|Molecular Note||This spontaneous C-to-A mutation (G-to-T on negative gene strand) at chromosome 15 position 97,986,841 (GRCm38) is located within the CAG spice acceptor site adjacent to exon 26, changing it to CAT, which is predicted to interfere with normal splicing.|