D2;B6-Npr3^lgj-2J/J

Stock number: 003507
Product name: longjohn 2 Jackson
Research areas: Cardiovascular Research, Developmental Biology Research

Description

These mice carry a spontaneous mutation at the Npr3 locus characterized by arachnodactyly, thoracic kyphosis, a lack of normal body fat deposits, and delayed endochondrial ossification.

Detailed description

Homozygous mutants are identifiable as young as six days of age by their elongated bodies and digits and a conical extension of the body at the base of the tail. Older mice are extremely thin and exhibit arachnodactyly, thoracic kyphosis and, often, kinks in the tail and/or sacrum. Upon necropsy, mice are found to lack normal body fat deposits. No significant craniofacial defects have been observed. Skeletal analysis demonstrated delayed endochondrial ossification, most obvious in the hind- and forepaws but affecting the entire skeleton. Retarded ossification was apparent in neonates and presumably occurs in utero.Both male and female Npr3^lgj-2J/Npr3^lgj-2Jmice are fertile and can breed.

An earlier mutation at this locus, Npr3^lgj, in the BALB/cJ inbred strain (stock number 003206) produces a similar phenotype. However, homozygous males of this stock number 003206 cannot reproduce because their more extreme spinal defect prevents them from mounting.

Development

The Npr3^lgj-2J mutation occurred spontaneously in 1996 in the DBA/2J inbred strain at The Jackson Laboratory. It was initially outcrossed once to a B6D2F1 female via ovarian transplant and subsequently has been maintained through backcross-intercross breeding. Thus, this strain does have a small amount of C57BL/6J in its genetic background but the mutant allele arose on a DBA/2J chromosomal segment. This mutation was originally named lgj^2J, longjohn-2J. When it was identified as a mutation of the Npr3 gene, it was renamed Npr3^lgj-2J.

Allele

Symbol: Npr3^lgj-2J
Name: longjohn 2 Jackson
MGI accession ID: MGI:1857835
Generation method: Spontaneous
Marker symbol: Npr3
Marker name: natriuretic peptide receptor 3
Chromosome: 15
Strain of origin: DBA/2J
Molecular note: A C-to-T transition mutation at coding nucleotide 283 (c.283C>T) introduces a premature stop codon at glutamine codon 95 (p.Q95*).
General note: Genbank: AF131863