Strain Data Sheet

RBRC01293

Strain Information

Image
BRC No.RBRC01293
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129-Psap<tm1Juma>/Rbrc
Former Common nameSaposin D mutant mouse
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Dr. Junko Matsuda, the University of Tokushima Graduate School and Dr. Kunihiko Suzuki, University of North Carolina at 2004.
Strain descriptionHomozygous mutant mice exhibit renal tubular degeneration around 2 months, and a cerebellar Purkinje cell degeneration around 4 months with accumulation of hydroxy fatty acid-containing ceramide. Average life sopan is 10-15 months.
Colony maintenanceBackcross to C57BL/6 (Heterozygote x C57BL/6JJcl)
References
Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse.
Matsuda J, Kido M, Tadano-Aritomi K, Ishizuka I, Tominaga K, Toida K, Takeda E, Suzuki K, Kuroda Y
Hum. Mol. Genet., 13, 2709-2723 (2004). 15345707

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Psap
MGI:97783		prosaposin10Psap<tm1Jmat>
MGI:3521746		targeted mutation 1, Junko Matsuda
  • 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)
    • loxP phage P1 loxP10loxP

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • Purkinje cell degeneration(MP:0000876)

  • abnormal brainstem morphology(MP:0005277)

  • abnormal gait(MP:0001406)

  • abnormal kidney cortex morphology(MP:0000521)

  • abnormal microglial cell physiology(MP:0003691)
    • more 9 phenotypes
  • abnormal motor coordination/balance(MP:0001516)

  • abnormal myelination(MP:0000920)

  • abnormal renal tubule morphology(MP:0002703)

  • ataxia(MP:0001393)

  • hydronephrosis(MP:0000519)

  • polydipsia(MP:0001426)

  • polyuria(MP:0001762)

  • premature death(MP:0002083)

  • small cerebellum(MP:0000852)
    • Detailed phenotype data

    Ordering Information

    Donor DNAPhage P1 loxP site, mouse prosaposin genomic DNA
    Research applicationCre/loxP system
    Neurobiology Research
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Hum. Mol. Genet., 13, 2709-2723 (2004).
    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