New mutant mouse with skeletal deformities caused by mutation in delta like 3 (Dll3) Gene

Yusuke Shinkai, Takehito Tsuji, Yasuo Kawamoto, Tetsuo Kunieda

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

We have established a new mouse strain with vertebral deformities caused by an autosomal single recessive mutation (oma). The mutant mice showed short trunk and short and kinky tail. The skeletal preparations of newborn and prenatal mice showed disorganized vertebrae and numerous vertebral and rib fusions which are thought to be caused by patterning defects at the stage of somitegenesis. Linkage analysis localized the oma locus on the proximal region of mouse chromosome 7 close to Dll3 gene. Dll3 is the gene involved in the Notch signaling pathway and null-mutation of the gene has been reported to cause vertebral deformities. The phenotypic similarity between oma and Dll3 null-mutant mice suggests that the causative gene for the oma mutant is the Dll3 gene. We, therefore, investigated the nucleotide sequence of the Dll3 gene of the oma mouse and found a single nucleotide substitution of G to T which causes missense mutation of glycine to cysteine at codon 409. Since the amino acid substitution is a noncons ervative amino acid substitution at the conserved portion of the Dll3 protein, and the substitution is specific to the mutant mice, we concluded that the nucleotide substitution of the Dll3 gene is responsible for the skeletal deformities of the oma mouse.

Original languageEnglish
Pages (from-to)129-136
Number of pages8
JournalExperimental Animals
Volume53
Issue number2
DOIs
Publication statusPublished - 2004

Fingerprint

Genes
mutation
mutants
Mutation
Substitution reactions
mice
genes
Nucleotides
amino acid substitution
Amino Acid Substitution
nucleotides
Amino Acids
missense mutation
Chromosomes, Human, Pair 7
Chromosomes
Glycine
Ribs
Missense Mutation
Cysteine
vertebrae

Keywords

  • Dll3
  • Mutant mouse
  • SCD
  • Somitegenesis
  • Vertebral deformity

ASJC Scopus subject areas

  • Animal Science and Zoology
  • veterinary(all)

Cite this

New mutant mouse with skeletal deformities caused by mutation in delta like 3 (Dll3) Gene. / Shinkai, Yusuke; Tsuji, Takehito; Kawamoto, Yasuo; Kunieda, Tetsuo.

In: Experimental Animals, Vol. 53, No. 2, 2004, p. 129-136.

Research output: Contribution to journalArticle

@article{8a18c846c6c444c18a96220850f16b67,
title = "New mutant mouse with skeletal deformities caused by mutation in delta like 3 (Dll3) Gene",
abstract = "We have established a new mouse strain with vertebral deformities caused by an autosomal single recessive mutation (oma). The mutant mice showed short trunk and short and kinky tail. The skeletal preparations of newborn and prenatal mice showed disorganized vertebrae and numerous vertebral and rib fusions which are thought to be caused by patterning defects at the stage of somitegenesis. Linkage analysis localized the oma locus on the proximal region of mouse chromosome 7 close to Dll3 gene. Dll3 is the gene involved in the Notch signaling pathway and null-mutation of the gene has been reported to cause vertebral deformities. The phenotypic similarity between oma and Dll3 null-mutant mice suggests that the causative gene for the oma mutant is the Dll3 gene. We, therefore, investigated the nucleotide sequence of the Dll3 gene of the oma mouse and found a single nucleotide substitution of G to T which causes missense mutation of glycine to cysteine at codon 409. Since the amino acid substitution is a noncons ervative amino acid substitution at the conserved portion of the Dll3 protein, and the substitution is specific to the mutant mice, we concluded that the nucleotide substitution of the Dll3 gene is responsible for the skeletal deformities of the oma mouse.",
keywords = "Dll3, Mutant mouse, SCD, Somitegenesis, Vertebral deformity",
author = "Yusuke Shinkai and Takehito Tsuji and Yasuo Kawamoto and Tetsuo Kunieda",
year = "2004",
doi = "10.1538/expanim.53.129",
language = "English",
volume = "53",
pages = "129--136",
journal = "Experimental Animals",
issn = "1341-1357",
publisher = "International Press Editing Centre Incorporation",
number = "2",

}

TY - JOUR

T1 - New mutant mouse with skeletal deformities caused by mutation in delta like 3 (Dll3) Gene

AU - Shinkai, Yusuke

AU - Tsuji, Takehito

AU - Kawamoto, Yasuo

AU - Kunieda, Tetsuo

PY - 2004

Y1 - 2004

N2 - We have established a new mouse strain with vertebral deformities caused by an autosomal single recessive mutation (oma). The mutant mice showed short trunk and short and kinky tail. The skeletal preparations of newborn and prenatal mice showed disorganized vertebrae and numerous vertebral and rib fusions which are thought to be caused by patterning defects at the stage of somitegenesis. Linkage analysis localized the oma locus on the proximal region of mouse chromosome 7 close to Dll3 gene. Dll3 is the gene involved in the Notch signaling pathway and null-mutation of the gene has been reported to cause vertebral deformities. The phenotypic similarity between oma and Dll3 null-mutant mice suggests that the causative gene for the oma mutant is the Dll3 gene. We, therefore, investigated the nucleotide sequence of the Dll3 gene of the oma mouse and found a single nucleotide substitution of G to T which causes missense mutation of glycine to cysteine at codon 409. Since the amino acid substitution is a noncons ervative amino acid substitution at the conserved portion of the Dll3 protein, and the substitution is specific to the mutant mice, we concluded that the nucleotide substitution of the Dll3 gene is responsible for the skeletal deformities of the oma mouse.

AB - We have established a new mouse strain with vertebral deformities caused by an autosomal single recessive mutation (oma). The mutant mice showed short trunk and short and kinky tail. The skeletal preparations of newborn and prenatal mice showed disorganized vertebrae and numerous vertebral and rib fusions which are thought to be caused by patterning defects at the stage of somitegenesis. Linkage analysis localized the oma locus on the proximal region of mouse chromosome 7 close to Dll3 gene. Dll3 is the gene involved in the Notch signaling pathway and null-mutation of the gene has been reported to cause vertebral deformities. The phenotypic similarity between oma and Dll3 null-mutant mice suggests that the causative gene for the oma mutant is the Dll3 gene. We, therefore, investigated the nucleotide sequence of the Dll3 gene of the oma mouse and found a single nucleotide substitution of G to T which causes missense mutation of glycine to cysteine at codon 409. Since the amino acid substitution is a noncons ervative amino acid substitution at the conserved portion of the Dll3 protein, and the substitution is specific to the mutant mice, we concluded that the nucleotide substitution of the Dll3 gene is responsible for the skeletal deformities of the oma mouse.

KW - Dll3

KW - Mutant mouse

KW - SCD

KW - Somitegenesis

KW - Vertebral deformity

UR - http://www.scopus.com/inward/record.url?scp=3142621397&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3142621397&partnerID=8YFLogxK

U2 - 10.1538/expanim.53.129

DO - 10.1538/expanim.53.129

M3 - Article

C2 - 15153675

AN - SCOPUS:3142621397

VL - 53

SP - 129

EP - 136

JO - Experimental Animals

JF - Experimental Animals

SN - 1341-1357

IS - 2

ER -