International Mammalian Genome Society

The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

F31 Three New Allelic Mouse Mutations that Cause Skeletal Overgrowth Involve the Natriuretic Peptide Receptor C Gene (Npr3)

Jean Jaubert1, Francis Jaubert2, Natalia Martin1, Linda L. Washburn3, Barbara K. Lee3, Eva M. Eicher3, and Jean-Louis Guenet. 1United Genetique des Mammiferes, Institut Pasteur, 25 Rue du, Docteur Roux, 75724 Paris Cedex 15, France ; 2Service d'Anatomie et de Cytologie Pathologiques, Hospital Necker/Enfants Malades, 149 Rue de Sevres, 75743 Paris Cedex 15, France; 3The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609-1500, USA

In 1979 a BALB/cJ mouse was identified with an exceptionally long body. This phenotype was found to be caused by a recessive mutation, designated longjohn (lgj), that mapped to the proximal region of Chromosome 15. Several years later a mouse with a similarly elongated body was identified in an outbred stock after chemical mutagenesis with ethylnitrosourea (ENU). This phenotype also was caused by a recessive mutation, designated strigosus (stri). The two mutations were found to be allelic. A third allele was identified in a DBA/2J mouse and designated longjohn-2J (lgj2J). Analysis of skeletal preparations of stri/stri mice indicated that the endochondral ossification process was slightly delayed resulting in an extended proliferation zone. A recent study reported that mice overexpressing brain natriuretic peptide (BNP), one of the members of the natriuretic peptide family, exhibit a skeletal overgrowth syndrome with endochondral ossification defects. The Npr3 gene coding for type C receptor for natriuretic peptides (NPR-C), which is mainly involved in the clearance of the natriuretic peptides, mapped in the vicinity of our mouse mutations and thus was a candidate gene. The present study reports that all three mutations involve the Npr3 gene and provide evidence in vivo that there is a natriuretic-related bone pathway, underscoring the importance of natriuretic peptide clearance by NPR-C.


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