Strain Name:
B6J;129S6-Tph2tm1Mca/McaMmnc
Stock Number:
068215-UNC
Citation ID:
RRID:MMRRC_068215-UNC
Other Names:
tryptophan hydroxylase 2; targeted mutation 1

Strain Information

Tph2tm1Mca
Name: tryptophan hydroxylase 2; targeted mutation 1, Marc G Caron
Synonyms: R439H Tph2, Tph2-KI
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 10
Alteration at locus: Knock-In
Tph2
Name: tryptophan hydroxylase 2
Type: Gene
Species: Mouse
Chromosome: 10
Alteration at locus: Knock-In
NCBI: 216343
Homologene: 27831
Genetic Alterations

Exon 10 and 11 were replaced with a floxed neo cassette and another copy of exon 10 and 11 with a nucleotide transition of G to A at position 1449 within exon 11. This transition results in an amino acid substitution of a histidine for an arginine at position 439 (R439H). The neo cassette was removed by transient cre-mediated recombination in ES cells. This allele was created to mimic the R441H mutation identified in humans that leads to 80% reduced enzymatic activity in PC12 cells.


Note: This is a mixed background version of MMRRC:43618.

HVGS Nomenclature
  • Genbank RefSeq - mRNA: NM_173391.3
  • Genbank RefSeq, protein: NP_775567.2
  • Variant, nucleic acid level: c.1316G>A
  • Variant, amino acid level, predicted: p.Arg439His
  • Check this variant: LUMC Mutalyzer
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    CMTI-1 derived from 129S6/SvEvTac
    Phenotype
    Homozygous: ~80% less brain serotonin
    Hetero/Hemizygous: ~50% less brain serotonin

    Mammalian Phenotype Terms
    Allelic Composition: (Genetic Background: )

    MeSH Terms
    • Amino Acid Substitution/genetics
    • Animals
    • Behavior, Animal/physiology
    • Cell Line
    • Glycogen Synthase Kinase 3/antagonists & inhibitors
    • Glycogen Synthase Kinase 3/physiology
    • Glycogen Synthase Kinase 3 beta
    • Humans
    • Immobilization/physiology
    • Interpersonal Relations
    • Locomotion/genetics
    • Locomotion/physiology
    • Mice
    • Mice, Inbred C3H
    • Mice, Inbred C57BL
    • Mice, Mutant Strains
    • Mutagenesis, Site-Directed
    • Serotonin/biosynthesis
    • Serotonin/deficiency
    • Serotonin/physiology
    • Signal Transduction/genetics
    • Tryptophan Hydroxylase/genetics
    • Tryptophan Hydroxylase/physiology
    Strain Development
    Chimera was bred to C57BL/6J, then inbred 129S6/SvEv x C57BL/6J for >30 generations.
    Suggested Control Mice

    Wild-type littermates

    MMRRC Genetic QC Summary
    The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@med.unc.edu. Older strains may not have this information.
    • Cell Biology
    • Models for Human Disease
    • Neurobiology
    Donor
    Marc Caron, Ph.D., Duke University.
    Primary Reference

    Beaulieu JM, Zhang X, Rodriguiz RM, Sotnikova TD, Cools MJ, Wetsel WC, Gainetdinov RR, Caron MG. Role of GSK3 beta in behavioral abnormalities induced by serotonin deficiency. Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1333-8. doi: 10.1073/pnas.0711496105. Epub 2008 Jan 22. (Medline PMID: 18212115)

    Colony and Husbandry Information

    Colony Surveillance Program and Current Health Reports

    Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc_health@med.unc.edu.
    Coat Color
    Agouti
    Eye
    Black
    MMRRC Breeding System
    Sib-mating
    Generation
    F30+
    Overall Breeding Performance
    Good
    Viability and Fertility: Female Male Comments
    Homozygotes are viable: Yes Yes
    Homozygotes are fertile: Yes Yes
    Heterozygotes are fertile: Yes Yes
    Age Reproductive Decline: 10 to 12 months 10 to 12 months
    Bred to Homozygosity
    Yes
    Average litter size
    7 to 9
    Recommended wean age
    3 Weeks
    Average Pups Weaned
    7 to 9

    Order Request Information

    Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

    The donor or their institution limits the distribution to non-profit institutions only.

    Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

    Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
    MMRRC Item # Description Distribution Fee / Unit (US $)
    *Shipping & Handling not included*
    Units Notes
    068215-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

    2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

    3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

    4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

    To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.