Strain Data Sheet

RBRC05275

Strain Information

Image
BRC No.RBRC05275
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.Cg-Pkdcc<tm1.1Mask>/Rbrc
Former Common nameVlk (Acc. No. CDB0434K)
H-2 Haplotype
ES Cell lineTT2 [(C57BL/6NCrlj x CBA/JNCrlj)F1]
Background strain
Appearance
Strain developmentDeveloped by Shin-Ichi Nishikawa, RIKEN Center for Developmental Biology.
Strain descriptionPkdcc, protein kinase domain containing, cytoplasmic knockout mice (24247-venus-LNL). Homozygous mice die soon after birth due to respiratory failure.
Colony maintenanceHeterozygote x Wild-type [C57BL/6N]
References
The novel protein kinase Vlk is essential for stromal function of mesenchymal cells.
Kinoshita M, Era T, Jakt L M, Nishikawa S
Development, 136, 2069-2079 (2009). 19465597

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Pkdcc
MGI:2147077		protein kinase domain containing, cytoplasmic17Pkdcc<tm1.1Mask>
MGI:4438609		targeted mutation 1.1, Masaki Kinoshita
  • rhizomelic limb shortening with dysmorphic features(MedGEN)
    • Venus Yellow Fluorescent Protein (Aequorea victoria)17Venus
    loxP phage P1 loxP17loxP

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal chondrocyte morphology(MP:0000166)

  • abnormal craniofacial bone morphology(MP:0002116)

  • abnormal craniofacial morphology(MP:0000428)

  • abnormal limb morphology(MP:0002109)

  • abnormal long bone morphology(MP:0003723)
    • more 23 phenotypes
  • abnormal lung morphology(MP:0001175)

  • abnormal nasal capsule morphology(MP:0004726)

  • abnormal palatal shelf elevation(MP:0009885)

  • abnormal pulmonary alveolus morphology(MP:0002270)

  • absent gastric milk in neonates(MP:0009546)

  • cleft palate(MP:0000111)

  • cyanosis(MP:0001575)

  • decreased birth body size(MP:0009703)

  • delayed bone ossification(MP:0000060)

  • delayed chondrocyte differentiation(MP:0014106)

  • impaired lung alveolus development(MP:0006027)

  • increased diameter of humerus(MP:0008160)

  • increased diameter of radius(MP:0008161)

  • increased diameter of ulna(MP:0008163)

  • neonatal lethality, complete penetrance(MP:0011087)

  • respiratory failure(MP:0001953)

  • short humerus(MP:0004351)

  • short limbs(MP:0000547)

  • short maxilla(MP:0000097)

  • short radius(MP:0004355)

  • short ulna(MP:0004359)

  • small maxilla(MP:0004540)

  • thick pulmonary interalveolar septum(MP:0001179)
    • Detailed phenotype data

    Ordering Information

    Donor DNAattB1,Jellyfish venus (GFP) cDNA, phage P1 loxP site, attB2, mouse Pkdcc genomic DNA
    Research applicationCre/loxP system
    Developmental Biology Research
    Fluorescent Proteins/lacZ System
    Specific Term and Conditions(1) In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the Acc.No. CDB0434K and Web. Site (https://large.riken.jp/distribution/mutant-list.html) is requested. (2) In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the literature designed by the DEPOSITOR is requested. (Development. 2009 136(12):2069-79.) (4) Please inform the DEPOSITOR (mutant.bdr@riken.jp) about the paper when published. (5) In publishing the research results obtained by use of the BIOLOGICAL RESOURCE containing Venus, an acknowledgment to Dr. Atsushi Miyawaki and a citation of the following literature(s) designated by the DEPOSITOR are requested.
    Nat. Biotechnol., 20, 87-90 (2002).
    DepositorRIKEN CDB (RIKEN CDB)
    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)
    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

    Mohammed J, Arora N, Matthews HS, Hansen K, Bader M, Walsh S, Shaffer JR, Weinberg SM, Swigut T, Claes P, Selleri L, Wysocka J.
    A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis.
    Elife 13 (2024) 38483448