Strain Data Sheet

RBRC00624

Strain Information

Image
BRC No.RBRC00624
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameCBA/J-Ptch1<mes>/Ms
Former Common nameCBA.mes
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain description
Colony maintenance
References
A spontaneous mouse mutation, mesenchymal dysplasia (mes), is caused by a deletion of the most C-terminal cytoplasmic domain of patched (ptc).
Makino S, Masuya H, Ishijima J, Yada Y, Shiroishi T
Dev. Biol., 239, 95-106 (2001). 11784021

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Ptch1
MGI:105373		patched 113Ptch1<mes>
MGI:1856954		mesenchymal dysplasia
  • basal cell carcinoma, susceptibility to, 1(MedGEN)

  • holoprosencephaly 7(MedGEN)

  • medulloblastoma(DisGeNET)
    • more 1 Diseases
  • nevoid basal cell carcinoma syndrome(DisGeNET, MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal enamel morphology (MP:0002576)

  • abnormal foot pad morphology (MP:0000574)

  • abnormal incisor morphology (MP:0005358)

  • abnormal skeleton morphology (MP:0005508)

  • abnormal spermatogenesis (MP:0001156)
    • more 18 phenotypes
  • abnormal tendon morphology (MP:0005503)

  • abnormal thoracic cavity morphology (MP:0004733)

  • abnormal upper incisor morphology (MP:0030137)

  • belly spot (MP:0000373)

  • cryptorchism (MP:0002286)

  • decreased fear-related response (MP:0003460)

  • dermal hyperplasia (MP:0004971)

  • female infertility (MP:0001926)

  • kinked tail (MP:0000585)

  • kyphosis (MP:0000160)

  • male infertility (MP:0001925)

  • ocular hypertelorism (MP:0001300)

  • polydactyly (MP:0000562)

  • short tail (MP:0000592)

  • shortened head (MP:0000435)

  • small male preputial gland (MP:0002716)

  • small seminal vesicle (MP:0001157)

  • thick tail (MP:0000588)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    Specific Term and ConditionsThe RECIPIENT of BIOLOGICAL RESOURCE shall obtain a prior written consent on use of it from the DEPOSITOR. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The RECIPIENT must contact the DEPOSITOR in the case of application for any patents or commercial use based on the results from the use of the BIOLOGICAL RESOURCE.
    DepositorToshihiko Shiroishi (National Institute of Genetics)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovery and QC required prior to distribution
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    BRC mice in Publications

    No Data