STOCK Ltbp3^blfc/GrsrJ

Stock number: 012854
Product name: blunt face
Research areas: Developmental Biology Research

Description

The spontaneous mutation blunt face causes craniofacial defects and reduced body size. This premature truncation was initially characterized on a predominantly LT/SvEi background.

Detailed description

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.

Development

This mutation arose spontaneously at The Jackson Laboratory in the congenic strain LT.MA-Glo^b H2^d/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

Symbol: Ltbp3^blfc
Name: blunt face
MGI accession ID: MGI:5816840
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Ltbp3
Marker name: latent transforming growth factor beta binding protein 3
Marker synonyms: DASS; GPHYSD3; LTBP2; LTBP-3; pp6425; STHAG6
Chromosome: 19
Strain of origin: LT.MA-Glo1^b H2^d/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*).