B6(129P2)-shsn/GrsrJ

Stock number: 008753
Product name: short snout

Description

Short snout (shsn) is a spontaneous, autosomal recessive mutation characterized by shortened face, lower bone mineral density, and reduced size.

Detailed description

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.

Development

The short snout mutation arose spontaneously in 2007 in the strain B6.129P2-Apoe^tm1Unc/J at The Jackson Laboratory. A short snout mutant was backcrossed to C57BL/6J and the offspring were intercrossed selecting away from Apoe^tm1Unc 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.

Allele

Symbol: shsn
Name: short snout
MGI accession ID: MGI:3812137
Generation method: Spontaneous
Marker symbol: shsn
Marker name: short snout
Chromosome: UN
Strain of origin: B6.129P2-Apoe^tm1Unc/J