Strain Data Sheet

RBRC06319

Strain Information

Image
BRC No.RBRC06319
TypeChemically-induced Mutation Congenic
SpeciesMus musculus
Strain nameB6.BTBR-Pah<enu2>
Former Common nameB6-Pah/enu2
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Akihiro Kume, Jichi Medical University. The original ENU mutant mice BTBR background were generated by Alexandra Shedlovsky and David McDonald, University of Wisconsin. The mutant mice were backcrossed to C57BL/6 over 26 times.
Strain descriptionPah (phenylalanine hydroxylase) gene ENU mutant mice. A point mutation (T835C) in exon 7 of the Pah introduced an amino acid substitution Phe263Ser. Homozygous mutant mice exhibit hyperphenylalaninemia on a normal diet. Model for Phenylketonuria (OMIM: 261600).
Colony maintenanceHeterozygote x Wild-type [C57BL/6JJcl]
References
Mouse models of human phenylketonuria.
A Shedlovsky, J D McDonald, D Symula, W F Dove
Genetics, 134, 1205-1210 (1993). 8375656

Characterization of mutations at the mouse phenylalanine hydroxylase locus.
J D McDonald, C K Charlton
Genomics, 39, 402-405 (1997). 9119379

Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy.
Hiroya Yagi, Sho Sanechika, Hiroshi Ichinose, Chiho Sumi-Ichinose, Hiroaki Mizukami, Masashi Urabe, Keiya Ozawa, Akihiro Kume
Neuroreport, 23, 30-34 (2012). 22107842

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Pah
MGI:97473		phenylalanine hydroxylase10Pah<enu2>
MGI:1857272		phenylalanine hydroxylase enu 2
  • classic phenylketonuria(DisGeNET)

  • phenylketonuria(DisGeNET, MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal cerebral cortex morphology (MP:0000788)

  • abnormal circulating amino acid level (MP:0005311)

  • abnormal enzyme/coenzyme level (MP:0005319)

  • abnormal learning/memory/conditioning (MP:0002063)

  • abnormal olfactory discrimination memory (MP:0001460)
    • more 13 phenotypes
  • abnormal response/metabolism to endogenous compounds (MP:0003638)

  • abnormal sensory capabilities/reflexes/nociception (MP:0002067)

  • abnormal urine homeostasis (MP:0009643)

  • behavior/neurological phenotype (MP:0005386)

  • decreased litter size (MP:0001935)

  • decreased serotonin level (MP:0010070)

  • hypopigmentation (MP:0005408)

  • impaired balance (MP:0001525)

  • impaired swimming (MP:0001522)

  • increased circulating phenylalanine level (MP:0030670)

  • increased phenylalanine level (MP:0030697)

  • microcephaly (MP:0000433)

  • postnatal growth retardation (MP:0001732)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMetabolism Research
    Mouse Models for Human Disease
    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. Neuroreport, 23, 30-34 (2012).
    DepositorAkihiro Kume (Jichi Medical 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)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data