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×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
Glb1
MGI:88151		galactosidase, beta 19Glb1<tm1Azzo>
MGI:3579514		targeted 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)
    • neo neomycin resistance gene (E. coli)9 mouse phosphoglycerate kinase promoter (PGK promoter)

    Phenotype

    Phenotype annotation from literatures by Mammalian phenotype 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

    供与核酸mouse phosphoglycerate kinase promoter (PGK promoter), E. coli neo, mouse beta-galactosidase genomic DNA
    Research applicationMetabolism Research
    Neurobiology Research
    提供条件条件を付加しない。
    Depositor松田　純子（徳島大学）
    Strain Status凍結胚のアイコン凍結胚
    凍結精子のアイコン凍結精子
    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
    凍結精子を1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)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data