Strain Data Sheet

RBRC05548

Strain Information

Image
BRC No.RBRC05548
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameSLW
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Tetsuo Kunieda, Faculty of Agriculture, Okayama University. Spontaneous mutation arose in ddY mouse colony. The mutant mouse was crossed with C57BL/6J, and maintained by sister-brother maintaining.
Strain descriptionShort-limbed dwarfism, SLW mice. Spontaneous mutation arose in ddY mouse colony. Homozygous mice show dwarfism and most of them die before weaning. A 7-base deletion was identified in exon 8 of the Npr2 gene, resulting in a frameshift and premature termination codon appearance.
Colony maintenanceHeterozygote x Wild-type
References
Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia.
Chizuru Sogawa, Takehito Tsuji, Yusuke Shinkai, Kentaro Katayama, Tetsuo Kunieda
J. Hered., 98, 575-580 (2007). 17728275

Gastrointestinal tract disorder in natriuretic peptide receptor B gene mutant mice.
Chizuru Sogawa, Asaki Abe, Takehito Tsuji, Mitsuru Koizumi, Tsuneo Saga, Tetsuo Kunieda
Am. J. Pathol., 177, 822-888 (2010). 20616347

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Npr2
MGI:97372		natriuretic peptide receptor 24Npr2<slw>
MGI:3774275		short-limbed dwarfism
  • acromesomelic dysplasia 1, Maroteaux type(DisGeNET, MedGEN)

  • short stature with nonspecific skeletal abnormalities 1(MedGEN)

  • tall stature-scoliosis-macrodactyly of the great toes syndrome(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal digestive system physiology (MP:0001663)

  • abnormal endochondral bone ossification (MP:0008272)

  • abnormal intestine physiology (MP:0010155)

  • abnormal pyloric sphincter morphology (MP:0009861)

  • chondrodystrophy (MP:0002657)
    • more 13 phenotypes
  • decreased body length (MP:0001258)

  • disproportionate dwarf (MP:0002427)

  • domed cranium (MP:0000440)

  • embryonic lethality, incomplete penetrance (MP:0011102)

  • enlarged interparietal bone (MP:0004386)

  • enlarged parietal bone (MP:0004421)

  • impaired gastric peristalsis (MP:0009854)

  • impaired muscle relaxation (MP:0003157)

  • meteorism (MP:0009247)

  • postnatal lethality, incomplete penetrance (MP:0011086)

  • short tail (MP:0000592)

  • small nasal bone (MP:0004470)

  • small supraoccipital bone (MP:0004444)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMouse Models for Human Disease
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Am. J. Pathol., 177, 822-888 (2010). Prior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR.
    DepositorTetsuo Kunieda (Okayama University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityLive mouse (3 to 6 months)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data