Homozygotes have a shortened, squared snout with abnormal measurements in the skull, nose, jaw lengths, skull height. Whole body bone mineral density, bone mineral content, whole body mass, and percent body fat are significantly lower in both female and male homozygotes compared with heterozygous controls. The reduction in bone mineral density and bone mineral content is also found when looking specifically at the skull. At 3 months of age 15 out of 16 homozygotes were found to have lens spots and photosensitivity.
The short snout mutation arose spontaneously in 2007 in the strain B6.129P2-Apoetm1Unc/J at The Jackson Laboratory. A short snout mutant was backcrossed to C57BL/6J and the offspring were intercrossed selecting away from Apoetm1Unc carriers to generate this mutant subline with only the short snout mutation. This line was maintained by sibling intercrossing and sperm was cryopreserved from homozygous males at generation N1F3.
When using the short snout mouse strain in a publication, please cite the originating article(s) and include JAX stock #008753 in your Materials and Methods section.