The spontaneous mutation blunt face causes craniofacial defects and reduced body size. This premature truncation was initially characterized on a predominantly LT/SvEi background.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Not Specified) | Ltbp3 | latent transforming growth factor beta binding protein 3 |
Mice homozygous for the blunt face mutation have a craniofacial defect, have a smaller overall body size by two weeks of age, and, although they increase in size as they mature, are still only two-thirds to three-quarters normal size as adults. Some can be approximately half normal size at two weeks of age and some do not survive beyond wean age. The craniofacial defect in homozygotes makes their faces appear shorter than normal with a blunted nose and wide-set eyes, which may appear to protrude. The orbits of the skull are round, not oblong. Ocular defects found include corneal holes, an iris coloboma and an optic cup ring. Small litter size, reduced fertility, and a high rate of nonproductive pairs were found when assessed on a predominantly LT/SvEi background.
This mutation arose spontaneously at The Jackson Laboratory in the congenic strain LT.MA-Glob H2d/J and was backcrossed 11 times to LT/SvEi before then being maintained by sibling intercrossing heterozygotes and homozygotes. Sperm was cryopreserved from homozygous males at generation N11F60 and standard cryorecovery using C57BL/6J oocytes proved successful.
Allele Name | blunt face |
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Allele Type | Spontaneous (Not Specified) |
Allele Synonym(s) | |
Gene Symbol and Name | Ltbp3, latent transforming growth factor beta binding protein 3 |
Gene Synonym(s) | |
Strain of Origin | LT.MA-Glo1b H2d/J |
Chromosome | 19 |
Molecular Note | This spontaneous G-to-T single base pair change in chromosome 19 positive strand position 5,751,407 bp (GRCm38) is in exon 15 and is creates a premature stop codon at glutamine codon 660 (p.E660*). |
When using the blunt face mouse strain in a publication, please cite the originating article(s) and include JAX stock #012854 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Ltbp3<blfc> |
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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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