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.
Strain descriptionNeurobiology Research, Metabolic Defects, Lysosomal Disease, Demyelinating disease
Colony maintenance
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

    Donor DNAphage P1 loxP site, mouse saposin A genomic DNA
    Research applicationCre/loxP system
    Metabolism Research
    Mouse Models for Human Disease
    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