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 +
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|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Ltbp3, latent transforming growth factor beta binding protein 3|
|Strain of Origin||LT.MA-Glo1b H2d/J|
|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*).|