Strain Data Sheet

RBRC03835

Strain Information

Image
BRC No.RBRC03835
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129X1-Pts<tm1Ich>
Former Common namePts-KO, Pts-/-
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Chiho Sumi-Ichinose, Fujita Health University in 2001.
Strain description
Colony maintenance
References
Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice.
Sumi-Ichinose C, Urano F, Kuroda R, Ohye T, Kojima M, Tazawa M, Shiraishi H, Hagino Y, Nagatsu T, Nomura T, Ichinose H
J. Biol. Chem., 276, 41150-41160 (2001). 11517215

Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.
Sumi-Ichinose C, Urano F, Shimomura A, Sato T, Ikemoto K, Shiraishi H, Senda T, Ichinose H, Nomura T
J. Neurochem., 95, 703-714 (2005). 16135092

Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.
Sato K, Sumi-Ichinose C, Kaji R, Ikemoto K, Nomura T, Nagatsu I, Ichinose H, Ito M, Sako W, Nagahiro S, Graybiel A M, Goto S
Proc. Natl. Acad. Sci. USA, 105, 12551-12556 (2008). 18713855

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Pts
MGI:1338783		6-pyruvoyl-tetrahydropterin synthase9Pts<tm1Ich> targeted mutation 1, Hiroshi Ichinose
  • BH4-deficient hyperphenylalaninemia A(DisGeNET, MedGEN)
    • neo neomycin resistance gene (E. coli)9 mouse Phosphoglycerate kinase (PGK) promoter
    SV40 PolyA signal9

    Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal amino acid level (MP:0005332)

  • abnormal biopterin level (MP:0005320)

  • abnormal neopterin level (MP:0005321)

  • abnormal nervous system physiology (MP:0003633)

  • abnormal noradrenaline level (MP:0003964)
    • more 8 phenotypes
  • abnormal serotonin level (MP:0005322)

  • decreased dopamine level (MP:0005643)

  • decreased heart rate (MP:0005333)

  • decreased noradrenaline level (MP:0012574)

  • decreased serotonin level (MP:0010070)

  • increased phenylalanine level (MP:0030697)

  • postnatal growth retardation (MP:0001732)

  • postnatal lethality, complete penetrance (MP:0011085)
    • Detailed phenotype data

    Ordering Information

    Donor DNAMouse Phosphoglycerate kinase promoter (PGK promoter), E. coli Neomycin resistance gene, SV40 PolyA signal, Mouse 6-Pyruvoyltetrahydropterin synthase (PTS) genomic DNA
    Research application
    Specific Term and ConditionsThe RECIPIENT of BIOLOGICAL RESOURCE must obtain a prior written consent on use of it from the DEPOSITOR/DEVELOPER.
    DepositorChiho Sumi-Ichinose (Fujita Health 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