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 developmentJackson Laboratory - Aichi Cancer Center Research Institute (1973?) - Saitama Cancer Center (1977, F16).
Strain descriptionBeige spontaneous mutant mice. Homozygous mutant mice snow a phenotype similar to human Chediak-Higashi syndrome.
Colony maintenanceHomozygote x Homozygote
References
Identification of the homologous beige and Chediak-Higashi syndrome genes.
Barbosa M D, Nguyen Q A, Tchernev V T, Ashley J A, Detter J C, Blaydes S M, Brandt S J, Chotai D, Hodgman C, Solari R C, Lovett M, Kingsmore S F
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

    Annotation by Mammalian phenotyhpe 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

    Donor DNA
    Research applicationDermatology Research
    Hematological Research
    Immunology and Inflammation Research
    Internal/Organ Research
    Metabolism Research
    Mouse Models for Human Disease
    Specific Term and ConditionsNo specific terms and conditions. (The DEPOSITOR waives its own rights under any patents, intellectual property, or other proprietary rights with respect to the results to be obtained by use of the BIOLOGICAL RESOURCE.)
    DepositorHayase Shisa (Saitama Cancer Center)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved embryos (within 1 month)
    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