Strain Data Sheet

RBRC00688

Strain Information

Image
BRC No.RBRC00688
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129S-Psap<tm2Suz>/JumaRbrc
Former Common namemouse saposin A mutant mouse
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearancebrown
black
Strain development2001, Junko Matsuda, M.D. and Kunihiko Suzuki, M.D.Neuroscience Center, Departments of neurology and Psychiatry, University of North Carolina, Chapel Hill, NC 27599-7250, U.S.A. F2 hybrid →129SvEv×C57BL/6JF10(Inbred) →C57BL/6J
Strain descriptionNeurobiology Research, Metabolic Defects, Lysosomal Disease, Demyelinating disease
Colony maintenanceHeterozygote×HeterozygoteHomozygote×Homozygote; 平均3回のpregnancyが可能
References
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
Matsuda J, Vanier M T, Saito Y, Tohyama J, Suzuki K, Suzuki K
Hum. Mol. Genet., 10, 1191-1199 (2001). 11371512

Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor.
Matsuda J, Vanier M T, Saito Y, Suzuki K, Suzuki K
Hum. Mol. Genet., 10, 2709-2715 (2001). 11726558

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Psapprosaposin10Psaptargeted mutation 2, Kunihiko Suzuki
  • combined PSAP deficiency(MedGEN)

  • Gaucher disease due to saposin C deficiency(MedGEN)

  • Krabbe disease due to saposin A deficiency(MedGEN)
    • more 1 Diseases
  • metachromatic leukodystrophy due to saposin B deficiency(MedGEN)
    • loxPphage P1 loxP10loxP
  • combined PSAP deficiency(MedGEN)

  • Gaucher disease due to saposin C deficiency(MedGEN)

  • Krabbe disease due to saposin A deficiency(MedGEN)
    • more 1 Diseases
  • metachromatic leukodystrophy due to saposin B deficiency(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • CNS inflammation(MP:0006082)

  • abnormal Schwann cell morphology(MP:0001106)

  • abnormal autonomic nervous system physiology(MP:0006276)

  • abnormal autophagy(MP:0008260)

  • abnormal brain white matter morphology(MP:0008026)
    • more 32 phenotypes
  • abnormal brainstem morphology(MP:0005277)

  • abnormal cerebellum morphology(MP:0000849)

  • abnormal enzyme/coenzyme activity(MP:0005584)

  • abnormal gait(MP:0001406)

  • abnormal habituation(MP:0011617)

  • abnormal intestinal peristalsis(MP:0003289)

  • abnormal involuntary movement(MP:0003492)

  • abnormal lipid level(MP:0001547)

  • abnormal liver morphology(MP:0000598)

  • abnormal macrophage morphology(MP:0002446)

  • abnormal myelin sheath morphology(MP:0003871)

  • abnormal nervous system morphology(MP:0003632)

  • abnormal spinal cord morphology(MP:0000955)

  • abnormal ventral spinal root morphology(MP:0003993)

  • decreased locomotor activity(MP:0001402)

  • demyelination(MP:0000921)

  • hindlimb paralysis(MP:0000755)

  • homeostasis/metabolism phenotype(MP:0005376)

  • hyperactivity(MP:0001399)

  • impaired coordination(MP:0001405)

  • increased spinal cord size(MP:0002809)

  • intestinal obstruction(MP:0003270)

  • microgliosis(MP:0008918)

  • muscle weakness(MP:0000747)

  • muscular atrophy(MP:0002269)

  • neurogenic bladder(MP:0005302)

  • neuronal intranuclear inclusions(MP:0004191)

  • premature death(MP:0002083)

  • seizures(MP:0002064)

  • short stride length(MP:0001407)

  • slow postnatal weight gain(MP:0008489)

  • sphingomyelinosis(MP:0009589)
    • Detailed phenotype data

    Ordering Information

    供与核酸phage P1 loxP site, mouse saposin A genomic DNA
    Research applicationCre/loxP system
    Metabolism Research
    Mouse Models for Human Disease
    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