B6;CBA-Dll3^pu-2J/GrsrJ

Stock number: 023017
Product name: pudgy 2 Jackson
Research areas: Developmental Biology Research, Internal/Organ Research

Description

This G304R point substitution provides a very mild allele compared with other mutations in this gene, but still provides a model for autosomal recessive spondylocostal dysostosis 1.

Detailed description

Mice homozygous for the pudgy 2 Jackson mutation have kinked or curly tails. Some may have shortened bodies or slightly shortened legs, but this phenotype is less severe than that caused by other alleles of this gene.

Development

The pudgy 2 Jackson mutation arose spontaneously in the lethal trembler mutant line, which arose in the B6CBA-Tg(HDexon1)62Gpb/1J strain. The Tg(HDexon1)62Gpb was bred out of this mutant line before the pudgy 2 Jackson phenotype arose, and sperm was cryopreserved from pudgy 2 Jackson homozygous males after 2 sibling intercrosses in which the lethal trembler phenotype was not detected. Thus, the cryopreserved bankstock may still carry the recessive lethal trembler mutation.

Allele

Symbol: Dll3^pu-2J
Name: pudgy 2 Jackson
MGI accession ID: MGI:5660113
Generation method: Spontaneous
Attributes: Hypomorph
Marker symbol: Dll3
Marker name: delta like canonical Notch ligand 3
Marker synonyms: SCDO1
Chromosome: 7
Strain of origin: C57BL/6 or CBA
Molecular note: This C-to-T transition at chromosome 7 position 28,296,465 bp (GRCm38) results in a p.G304R mutation.