C57BL/6J-Sox9^Bbfc/GrsrJ

Stock number: 016545
Product name: babyface
Research areas: Developmental Biology Research

Description

This point substitution causes craniofacial defects in heterozgyotes, but no fertility defects or sex reversal, and causes embryonic lethality in homozygotes. This mutant provides a model for Campomelic Dysplasia.

Detailed description

The babyface mutation causes craniofacial abnormalities including shortened snout, reduced skull length, reduced upper jaw length, and a domed appearance of the head due to reduced skull height to width ratios and increased skull height to length ratios. Male heterozygotes are smaller than normal and have less body fat than normal, but no reduction in fertility or sex reversal has been found for this Sox9 mutant. Heterozgyotes of this hypomorph are viable, where Sox9 null mutations generally cause perinatal lethality in heterozygotes. Timed matings of heterozygotes produced no homozygous embryos in dissections at E12.5, E9.5, or E7.5, the earliest timepoint assessed. This mutation provides a model for Campomelic Dysplasia.

Development

The babyface mutation was identified in the progeny of an ENU treated C57BL/6J male at The Jackson Laboratory and has been maintained coisogenic on the C57BL/6J background. Sperm was cryopreserved from heterozygous males.

Allele

Symbol: Sox9^Bbfc
Name: babyface
MGI accession ID: MGI:5546026
Generation method: Chemically induced (ENU)
Attributes: Hypomorph
Marker symbol: Sox9
Marker name: SRY (sex determining region Y)-box 9
Chromosome: 11
Strain of origin: C57BL/6J
Molecular note: A C-to-T transition mutation results in a threonine to methionine missense mutation at codon 87 (p.T87M).