Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia.

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  • Additional Information
    • Source:
      Publisher: Oxford University Press For The American Genetic Association Country of Publication: United States NLM ID: 0375373 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0022-1503 (Print) Linking ISSN: 00221503 NLM ISO Abbreviation: J Hered Subsets: MEDLINE
    • Publication Information:
      Publication: New York, NY : Oxford University Press For The American Genetic Association
      Original Publication: Baltimore [etc.] American Genetic Assn.
    • Subject Terms:
      Dwarfism/*genetics ; Exostoses, Multiple Hereditary/*genetics ; Guanylate Cyclase/*genetics ; Receptors, Atrial Natriuretic Factor/*genetics; Animals ; Chromosome Mapping ; Crosses, Genetic ; Exostoses, Multiple Hereditary/pathology ; Extremities/anatomy & histology ; Female ; Growth Plate/pathology ; Male ; Mice ; Mice, Mutant Strains/anatomy & histology ; Mice, Mutant Strains/genetics ; Probability
    • Abstract:
      Short-limbed dwarfism (SLW) is a new mutant mouse characterized by a dwarf phenotype with markedly short body, limbs, and tail. In the present study, we investigated the skeletal phenotypes of the SLW mouse and determined the chromosomal localization to identify the gene responsible for the phenotypes (slw). Skeletal preparations stained with alcian blue and alizarin red revealed that longitudinal growth of the extremities of the affected (slw/slw) mice was significantly reduced in comparison with that of normal mice, whereas the positions and numbers of skeletal elements were normal. Histological examination of tibial growth plates of the affected mice showed that the numbers of proliferating and hypertrophic chondrocytes were obviously diminished. These phenotypes resembled to those of human chondrodysplasias caused by defective chondrocyte proliferation and differentiation. We mapped the slw locus on an 11.7-cM interval of the proximal region of mouse chromosome 4 by linkage analysis. Furthermore, allelism test using Npr2(cn) locus, a mutant allele of Npr2 gene encoding a natriuretic peptide receptor B, revealed that slw locus is an allele of the Npr2 gene. These results suggest that the dwarf phenotype of the SLW mouse is caused by the disturbed endochondral ossification, and a mutation in the Npr2 gene is expected to be responsible for the phenotypes of the SLW mouse.
    • Accession Number:
      EC 4.6.1.2 (Guanylate Cyclase)
      EC 4.6.1.2 (Receptors, Atrial Natriuretic Factor)
      EC 4.6.1.2 (atrial natriuretic factor receptor B)
    • Publication Date:
      Date Created: 20070831 Date Completed: 20080107 Latest Revision: 20070927
    • Publication Date:
      20231215
    • Accession Number:
      10.1093/jhered/esm065
    • Accession Number:
      17728275