Short-limbed dwarfism

slw is a new allele of Npr2 causing chondrodysplasia

Chizuru Sogawa, Takehito Tsuji, Yusuke Shinkai, Kentaro Katayama, Tetsuo Kunieda

Research output: Contribution to journalArticle

26 Citations (Scopus)

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 Npr2cn 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.

Original languageEnglish
Pages (from-to)575-580
Number of pages6
JournalJournal of Heredity
Volume98
Issue number6
DOIs
Publication statusPublished - Sep 2007

Fingerprint

Enchondromatosis
Dwarfism
dwarfing
Alleles
alleles
mice
Phenotype
phenotype
chondrocytes
Chondrocytes
loci
Genes
genes
Extremities
Genetic Complementation Test
alizarin
allelism
Alcian Blue
mutants
Chromosomes, Human, Pair 4

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Genetics
  • Genetics(clinical)

Cite this

Short-limbed dwarfism : slw is a new allele of Npr2 causing chondrodysplasia. / Sogawa, Chizuru; Tsuji, Takehito; Shinkai, Yusuke; Katayama, Kentaro; Kunieda, Tetsuo.

In: Journal of Heredity, Vol. 98, No. 6, 09.2007, p. 575-580.

Research output: Contribution to journalArticle

Sogawa, Chizuru ; Tsuji, Takehito ; Shinkai, Yusuke ; Katayama, Kentaro ; Kunieda, Tetsuo. / Short-limbed dwarfism : slw is a new allele of Npr2 causing chondrodysplasia. In: Journal of Heredity. 2007 ; Vol. 98, No. 6. pp. 575-580.
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