RGD Reference Report - Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene (Npr3). - Rat Genome Database

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Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene (Npr3).

Authors: Jaubert, J  Jaubert, F  Martin, N  Washburn, LL  Lee, BK  Eicher, EM  Guenet, JL 
Citation: Jaubert J, etal., Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10278-83.
RGD ID: 1580774
Pubmed: PMID:10468599   (View Abstract at PubMed)
PMCID: PMC17879   (View Article at PubMed Central)

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. 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 was designated longjohn-2J (lgj(2J)). 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, 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 provides evidence in vivo that there is a natriuretic-related bone pathway, underscoring the importance of natriuretic peptide clearance by natriuretic peptide type C receptor.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
musculoskeletal system disease  ISONpr3 (Mus musculus)1580774; 1580774DNA:deletion more ...RGD 
musculoskeletal system disease  IAGP 1580774DNA:deletion more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Npr3  (natriuretic peptide receptor 3)

Genes (Mus musculus)
Npr3  (natriuretic peptide receptor 3)

Genes (Homo sapiens)
NPR3  (natriuretic peptide receptor 3)


Additional Information