The C57BL/6J background strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss with onset after 10 months of age. The retinal degeneration 1 mutation, Pde6brd1, of the PL/J donor strain may still be segregating in this incipient congenic.
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 Name||long bone abnormality|
|Gene Symbol and Name||Nppc, natriuretic peptide type C|
|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.|
Homozygotes have not been found to breed.
When using the long bone abnormality mouse strain in a publication, please cite the originating article(s) and include JAX stock #004521 in your Materials and Methods section.