Strain Data Sheet

RBRC00134

Strain Information

Image
BRC No.RBRC00134
TypeSpontaneous Mutation Congenic
SpeciesMus musculus
Strain nameC57BL/6-Lyst<bg-J>/StmRbrc
Former Common nameC57BL/6-bg/bg
H-2 Haplotypeb
ES Cell line
Background strainC57BL/6J
Appearancelight black [aaBBCC;bgJ/bgJ]
Strain developmentジャクソン研究所 ー 愛知がんセンター（1973?）ー 埼玉県立がんセンター（1977, F16）ー 理化学研究所（筑波）（F85）。
Strain descriptionBeige自然突然変異マウス。Chediac-Higashi病のモデル。NK細胞活性低下、メラノサイト、好中球、リンパ球などの細胞質に巨大顆粒が認められる。
Colony maintenanceHomozygote x Homozygote
References
Identification of the homologous beige and Chediak-Higashi syndrome genes.
M D Barbosa, Q A Nguyen, V T Tchernev, J A Ashley, J C Detter, S M Blaydes, S J Brandt, D Chotai, C Hodgman, R C Solari, M Lovett, S F Kingsmore
Nature, 382, 262-265 (1996). 8717042

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Lyst
MGI:107448		lysosomal trafficking regulator13Lyst<bg-J>
MGI:1855969		beige Jackson
  • Chediak-Higashi syndrome(DisGeNET, MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal anterior uvea morphology (MP:0005194)

  • abnormal eye anterior chamber morphology (MP:0005205)

  • abnormal gait (MP:0001406)

  • abnormal granulocyte morphology (MP:0002441)

  • abnormal iridocorneal angle (MP:0004221)
    • more 19 phenotypes
  • abnormal iris morphology (MP:0001322)

  • abnormal iris pigment epithelium (MP:0005199)

  • abnormal iris pigmentation (MP:0005102)

  • abnormal iris stroma morphology (MP:0005208)

  • abnormal neutrophil morphology (MP:0005065)

  • abnormal vestibuloocular reflex (MP:0004844)

  • decreased Purkinje cell number (MP:0000880)

  • decreased lysosomal enzyme secretion (MP:0003173)

  • decreased macrophage cell number (MP:0003884)

  • decreased platelet ADP level (MP:0009557)

  • decreased platelet ATP level (MP:0009448)

  • decreased platelet serotonin level (MP:0004725)

  • impaired balance (MP:0001525)

  • impaired natural killer cell mediated cytotoxicity (MP:0005070)

  • impaired swimming (MP:0001522)

  • increased bleeding time (MP:0005606)

  • paraparesis (MP:0009434)

  • tremors (MP:0000745)

  • vision/eye phenotype (MP:0005391)
    • Detailed phenotype data

    Ordering Information

    供与核酸
    Research applicationDermatology Research
    Hematological Research
    Immunology and Inflammation Research
    Internal/Organ Research
    Metabolism Research
    Mouse Models for Human Disease
    提供条件条件を付加しない。
    Depositor志佐　湍（埼玉県立がんセンター研究所）
    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