Strain Data Sheet

RBRC00690

Strain Information

Image
BRC No.RBRC00690
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129P2-Glb1<tm11Azzo>/Rbrc
Former Common namebeta-galactosidase Knockout mice
H-2 Haplotype
ES Cell lineE14 [129P2/OlaHsd]
Background strainC57BL/6JJcl
Appearanceblack
Strain development1997, Kunihiko Suzuki, M.D.Departments of neurology and Psychiatry, University of North Carolina, Chapel Hill, NC 27599-7250, U.S.A.
Strain descriptionNeurobiology Research, Metabolic Defects, Lysosomal Storage Disease
Colony maintenanceHeterozygote X Heterozygote
References
Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.
Hahn C N, del Pilar Martin M, Schroder M, Vanier M T, Hara Y, Suzuki K, Suzuki K, d'Azzo A
Hum. Mol. Genet., 6, 205-211 (1997). 9063740

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Glb1galactosidase, beta 19Glb1targeted mutation 1, Alessandra d’Azzo
  • GM1 gangliosidosis type 1(MedGEN)

  • GM1 gangliosidosis type 2(MedGEN)

  • GM1 gangliosidosis type 3(MedGEN)
  • more 1 Diseases
  • mucopolysaccharidosis type 4B(DisGeNET, MedGEN)
  • neoneomycin resistance gene (E. coli)9mouse phosphoglycerate kinase promoter (PGK promoter)
  • GM1 gangliosidosis type 1(MedGEN)

  • GM1 gangliosidosis type 2(MedGEN)

  • GM1 gangliosidosis type 3(MedGEN)
  • more 1 Diseases
  • mucopolysaccharidosis type 4B(DisGeNET, MedGEN)
  • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal brain morphology(MP:0002152)

  • abnormal brainstem morphology(MP:0005277)

  • abnormal cerebellum morphology(MP:0000849)

  • abnormal gait(MP:0001406)

  • abnormal ganglioside level(MP:0012231)
  • more 3 phenotypes
  • abnormal neuron morphology(MP:0002882)

  • ataxia(MP:0001393)

  • tremors(MP:0000745)
  • Detailed phenotype data

    Ordering Information

    Donor DNAmouse phosphoglycerate kinase promoter (PGK promoter), E. coli neo, mouse beta-galactosidase genomic DNA
    Research applicationMetabolism Research
    Neurobiology Research
    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.)
    DepositorJunko Matsuda (Tokushima University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    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)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data