Strain Name:
STOCK Pkd1m1Bei/Mmnc
Stock Number:
000054-UNC
Citation ID:
RRID:MMRRC_000054-UNC

Strain Information

Pkd1m1Bei
Name: polycystin 1, transient receptor potential channel interacting; mutation 1, David R Beier
Synonyms: Pkd1-, line 172
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 17
Alteration at locus: Chemically Induced
Pkd1
Name: polycystin 1, transient receptor potential channel interacting
Synonyms: polycystin-1, PC1, PC-1
Type: Gene
Species: Mouse
Chromosome: 17
Alteration at locus: Chemically Induced
NCBI: 18763
VEGA: 17
HGNC: HGNC:9008
Homologene: 250
Genetic Alterations
T to G nucleotide substitution at 9248 bp. This results in a nonconservative substitution of arginine for methionine in the first transmembrane domain of the Pkd1 protein.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • Phenotype
    Embryonic onset of pancreatic and kidney cyst formation in homozygous mutant. Late onset of hepatic cysts in heterozygotes.
    Mammalian Phenotype Terms
    Allelic Composition: Pkd1m1Bei/Pkd1m1Bei (Genetic Background: involves: A/J * FVB/N )

    MeSH Terms
    • Animals
    • Base Sequence
    • Chromosome Mapping
    • DNA/genetics
    • DNA Mutational Analysis
    • Embryonic and Fetal Development/genetics
    • Ethylnitrosourea/toxicity
    • Female
    • Genes, Recessive
    • Haplotypes
    • Male
    • Mice
    • Mice, Inbred A
    • Mice, Inbred BALB C
    • Mutagenesis
    • Mutation
    • Phenotype
    • Pregnancy
    Strain Development
    This allele was induced by injection of ENU into A/J male mice, which were subsequently mated to FVB/NCrlBR females. G1 males were crossed again to FVB females and G2 females were crossed back to the male G1 parent. G3 fetuses were analyzed for phenotypes.
    Suggested Control Mice
    • Wildtype littermates
    • C57BL/6
    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.
    • This is a mouse model of cystic kidney disease. The affected amino acid is conserved as methionine in mice, rats, humans, pigs and cows; furthermore, similar missense changes in PKD1 transmembrane domains have been identified in two affected human families.
    Donor
    David R. Beier, M.D., Ph.D., Brigham and Women's Hospital/Harvard Medical
    Primary Reference

    Herron, B.J., W. Lu, C. Rao, S. Liu, H. Peters, R.T. Bronson, M.J. Justice, J.D. McDonald, and D.R. Beier. 2002. Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet 30: 185-189. (Medline PMID: 11818962)

    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
    Black
    MMRRC Breeding System
    Backcross
    Breeding Scheme(s)
    • Heterozygous Female x C57BL/6 Male
    • Heterozygous Male x C57BL/6 Female
    Generation
    N5 As of: 09/01/2003
    Overall Breeding Performance
    Good
    Average litter size
    6-7
    Recommended wean age
    3 weeks

    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
    000054-UNC-EMBRYO Cryo-preserved embryos $1,404.00 / Non-Profit Aliquot Approximate quantity2 : 20-40 embryos / aliquot
    000054-UNC-SPERM Cryo-preserved spermatozoa $564.00 / Non-Profit Aliquot Approximate quantity3
    000054-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.

    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.