Strain Data Sheet

RBRC00040

Strain Information

Image
BRC No.RBRC00040
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameC;B6 a-Kit<W-sh>/Rbrc
Former Common nameC;B6-a/a・B/B-W Sh/+, Sash black, B6C3-W Sh/+ (black)
H-2 Haplotype
ES Cell line
Background strain
Appearancewhite spot [Sh hetero]
black eyed, white coat, affected [Sh homo]
Strain developmentC57BL/6-W<Sh>/+を大阪大学北村幸彦先生より導入。BALB/cAとの交雑後、近親交配。
Strain descriptionSash semidominant遺伝子を有するミュータント。c-kit遺伝子の機能解析。メラノサイトならびに性殖腺分化の発生学的解析。ヘテロ個体は腰部に白班。ホモ個体は黒目の毛白。
Colony maintenance兄妹交配による維持。ヘテロ個体と野生型との交配、または、ヘテロ個体同士の交配により維持する。ホモ個体の雄は不妊。繁殖効率：B
References
c-kit Gene was not transcribed in cultured mast cells of mast cell-deficient Wsh/Wsh mice that have a normal number of erythrocytes and a normal c-kit coding region.
Tono T, Tsujimura T, Koshimizu U, Kasugai T, Adachi S, Isozaki K, Nishikawa S, Morimoto M, Nishimune Y, Nomura S, et a l
Blood, 15, 1448-1453 (1992). 1381627

W-sash affects positive and negative elements controlling c-kit expression: ectopic c-kit expression at sites of kit-ligand expression affects melanogenesis.
Duttlinger R, Manova K, Chu T Y, Gyssler C, Zelenetz A D, Bachvarova R F, Besmer P
Development, 118, 705-717 (1993). 7521281

C-kit gene is expressed by skin mast cells in embryos but not in puppies of Wsh/Wsh mice: age-dependent abolishment of c-kit gene expression.
Yamazaki M, Tsujimura T, Morii E, Isozaki K, Onoue H, Nomura S, Kitamura Y
Blood, 83, 3509-3516 (1994). 7515715

The W(sh), W(57), and Ph Kit expression mutations define tissue-specific control elements located between -23 and -154 kb upstream of Kit.
Berrozpe G, Timokhina I, Yukl S, Tajima Y, Ono M, Zelenetz A D, Besmer P
Blood, 94, 2658-2666 (1999). 10515869

Mast cell-deficient W-sash c-kit mutant Kit W-sh/W-sh mice as a model for investigating mast cell biology in vivo.
Grimbaldeston M A, Chen C C, Piliponsky A M, Tsai M, Tam S Y, Galli S J
Am. J. Pathol., 167, 835-848 (2005) 16127161

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
a
MGI:87853		nonagouti2a<a>
MGI:1855937		nonagouti
Kit
MGI:96677		KIT proto-oncogene receptor tyrosine kinase5Kit<W-Sh>
MGI:1856265		sash
  • 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
  • abnormal coat/hair pigmentation (MP:0002075)

  • abnormal definitive hematopoiesis (MP:0002123)

  • abnormal erythrocyte cell number (MP:0001586)

  • abnormal vascular permeability (MP:0001619)

  • absent coat pigmentation (MP:0005171)
    • more 8 phenotypes
  • belly spot (MP:0000373)

  • decreased erythrocyte cell number (MP:0002875)

  • decreased mast cell degranulation (MP:0008765)

  • decreased mast cell number (MP:0000336)

  • decreased susceptibility to type I hypersensitivity reaction (MP:0005597)

  • impaired behavioral response to xenobiotic (MP:0009747)

  • increased susceptibility to parasitic infection (MP:0005027)

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

    Ordering Information

    供与核酸
    Research applicationDevelopmental Biology Research
    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
    凍結胚を1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)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data