Strain Data Sheet

RBRC00047

Strain Information

Image
BRC No.RBRC00047
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameB6C3Fe a/a-Kit<W-Rbrc2>/Rbrc
Former Common nameB6C3Fe-a/a-WR2; B6C3Fe-a/a-W<R2>
H-2 Haplotype
ES Cell line
Background strain
Appearanceblack, white spotting [a/a W/+]
white with black eyes [a/a W/W]
Strain development1995、開発者:日下部守昭先生
Strain descriptionJackson Laboratoryから導入したB6C3Fe-a/a-pcdの系統維持過程で出現したdominant white spotting。飼育担当者 (立花) により発見された。C-kitの対立遺伝子。変異の位置や種類は未解析。毛色は黒に腹部白斑。
Colony maintenance+/+ x W/+または W/+ x W/+の兄妹交配でヘテロ個体として維持。ホモ個体は黒目白色毛で不妊である。繁殖効率：C
References

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Agtpbp1
MGI:2159437		ATP/GTP binding protein 113Agtpbp1<pcd> Purkinje cell degeneration
  • neurodegeneration, childhood-onset, with cerebellar atrophy(MedGEN)
    • a
    MGI:87853    		nonagouti2a<a>
    MGI:1855937    		nonagouti
    Kit
    MGI:96677    		KIT proto-oncogene receptor tyrosine kinase5Kit<W-2Rbrc> RIKEN BRC 2
  • acute myeloid leukemia(DisGeNET, MedGEN)

  • cutaneous mastocytosis(MedGEN)

  • gastrointestinal stromal tumor(DisGeNET, MedGEN)
    • more 3 Diseases
  • mastocytosis(DisGeNET)

  • piebaldism(DisGeNET, MedGEN)

  • testicular germ cell tumor(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • belly spot (MP:0000373)

  • infertility (MP:0001924)

  • variable body spotting (MP:0002940)
    • Detailed phenotype data

    Ordering Information

    供与核酸
    Research application
    提供条件条件を付加しない。
    DepositorRIKEN BRC（独立行政法人理化学研究所）
    Strain Status凍結胚のアイコン凍結胚
    Strain Availability凍結胚より作出したマウスを2~4ヶ月以内に提供可能
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    BRC mice in Publications

    No Data