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Strain Detail Sheet

Strain Name:
C57BL/6J-Pkd2m1Btlr/Mmmh
Stock Number:
038225--TBD-
Citation ID:
RRID:MMRRC_038225--TBD-
Other Names:
Nephro
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Pkd2m1Btlr
Name: polycystin 2, transient receptor potential cation channel; mutation 1, Bruce Beutler
Synonyms: nephro
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Chemically Induced
Pkd2
Name: polycystin 2, transient receptor potential cation channel
Synonyms: polycystin-2, C030034P18Rik, TRPP2, PC2
Type: Gene
Species: Mouse
Chromosome: 5
Alteration at locus: Chemically Induced
NCBI: 18764
HGNC: HGNC:9009
Homologene: 20104

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
ENU-induced T to A transversion at base pair 56,423,352 (v38) on chromosome 7, or base pair 29,583 in the GenBank genomic region NC_000071 encoding the Pkd2 gene. The mutation corresponds to residue 1,882 in the NM_008861 mRNA sequence in exon 7 of 15 total exons. The mutation results in a tryptophan (W) to arginine (G) substitution at position 568 (W568R) in the polycystin-2 (PC2) protein.

Strain Description

Phenotype

Homozygous: Mice showed swollen abdomens; dissection of the affected mice revealed that the mice had polycystic kidneys.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
Strain Development
Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.
Suggested Control Mice
Wild-type littermates or C57BL/6J mice

MMRRC Genetic QC

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 . Older strains may not have this information.

Research Applications

  • Models of Human Disease
    • Autosomal dominant polycystic kidney disease 2 (ADPKD2; OMIM: #613095)
  • Internal/Organ

Strain Origin

Primary Reference

Prince L, Russell J, Murray AR, Beutler B. Record for nephro. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.

Colony and Husbandry Information

Health Status Report

For more information about this colony's health status contact

Appearance

Coat Color
Black

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Unknown Unknown

Order Request Information

Availability Level

The availability level for this product has not been determined.

Conditions of Distribution

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.

Fees

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