These mice carry a spontaneous mutation at the Npr2 locus characterized by dwarfism. They are suitable for use in applications related to the study of the molecular mechanism regulating endochondral ossification by CNP/natriuretic peptide receptor B signal.Read More +
The achondroplastic mouse is a spontaneous mutant characterized by disproportionate dwarfism with short limbs and tail due to disturbed chondrogenesis during endochondral ossification. This gene encodes a receptor for C-type natriuretic peptide (CNP) that positively regulates longitudinal bone growth by producing cGMP in response to CNP binding to the extracellular domain. Sequence analyses of the Npr2 gene in homozygous mice revealed a T to G transversion leading to the amino acid substitution of highly conserved Leu with Arg in the guanylyl cyclase domain. The dwarf phenotype of homozygotes is thus caused by a loss-of-function mutation of the Npr2 gene.
cn is a spontaneous mutation that was found in 1960 in the AKR/J colony at The Jackson Laboratory. This mutation was backcrossed three generations to C57BL/6J, then backcrossed four generations to C3H/HeDiSn, then crossed once to AKR/J, then backcrossed two generations to LG/J, then sibling mated heterozygote x heterozygote until F50 before freezing by sibling mating. In 2000, a homozygous female of the STOCK background (stock #000294) was bred via ovarian transplant to a BALB/cByJ male and the offspring have been sibling mated since resulting in stock #003913. This strain was cryopreserved in 2004.
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Npr2, natriuretic peptide receptor 2|
|Strain of Origin||AKR/J|
|Molecular Note||The molecular basis of this mutation is a T-to-G transversion resulting in a leucine to arginine change in codon 885 (p.L885R). This is a missence mutation resulting in production of an inactive form of Npr2.|