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.
Read More +Genetic Background | Generation |
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000664 C57BL/6J |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) (Hypomorph) | Sox9 | SRY (sex determining region Y)-box 9 |
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.
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 Name | babyface |
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Allele Type | Chemically induced (ENU) (Hypomorph) |
Allele Synonym(s) | |
Gene Symbol and Name | Sox9, SRY (sex determining region Y)-box 9 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 11 |
Molecular Note | A C-to-T transition mutation results in a threonine to methionine missense mutation at codon 87 (p.T87M). |
This spontaneous dominant mutation has incomplete penetrance in heterozgyotes so mice appearing wild type may be heterozygous.
When using the babyface mouse strain in a publication, please cite the originating article(s) and include JAX stock #016545 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or wildtype for Sox9<Bbfc> |
Frozen Mouse Embryo | C57BL/6J-Sox9<Bbfc>/GrsrJ Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Sox9<Bbfc>/GrsrJ Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Sox9<Bbfc>/GrsrJ Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | C57BL/6J-Sox9<Bbfc>/GrsrJ Frozen Embryos | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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