B6.PL-Nppc^lbab/GrsrJ

Stock number: 004521
Product name: long bone abnormality
Research areas: Developmental Biology Research, Reproductive Biology Research, Research Tools

Description

These mice carry a spontaneous mutation at the Nppc locus characterized by proportionate dwarfing of organs and shorter tails and long bones.

Development

The lbab mutation arose spontaneously on the PL/J inbred strain at The Jackson Laboratory in 1996 when that inbred was at generation F171. Because this mutation was difficult to maintain on the PL/J background, it was immediately backcrossed onto C57BL/6J. For the most part, this has been done by breeding heterozygotes with C57BL/6J mates then progeny testing the offspring to identify heterozygotes to continue the backcross. This strain reached F171+N6F1 in 2004.

Allele

Symbol: Nppc^lbab
Name: long bone abnormality
MGI accession ID: MGI:2388899
Generation method: Spontaneous
Marker symbol: Nppc
Marker name: natriuretic peptide type C
Chromosome: 1
Strain of origin: PL/J
Molecular note: lbab is a spontaneous mutation identified at The Jackson Laboratory. A C-to-G transversion mutation in exon 2 results in the substitution of arginine with glycine at position 117 (p.R117G) in a conserved domain of the encoded protein.