[HTML][HTML] A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse
T Tsuji, T Kunieda - Journal of Biological Chemistry, 2005 - ASBMB
The achondroplastic mouse is a spontaneous mutant characterized by disproportionate
dwarfism with short limbs and tail due to disturbed chondrogenesis during endochondral
ossification. These abnormal phenotypes are controlled by an autosomal recessive gene
(cn). In this study, linkage analysis using 115 affected mice of F 2 progeny mapped the cn
locus on an∼ 0.8-cM region of chromosome 4, and natriuretic peptide receptor 2 (Npr2)
gene was identified as the most potent candidate for the cn mutant in this region. This gene …
dwarfism with short limbs and tail due to disturbed chondrogenesis during endochondral
ossification. These abnormal phenotypes are controlled by an autosomal recessive gene
(cn). In this study, linkage analysis using 115 affected mice of F 2 progeny mapped the cn
locus on an∼ 0.8-cM region of chromosome 4, and natriuretic peptide receptor 2 (Npr2)
gene was identified as the most potent candidate for the cn mutant in this region. This gene …