Strain Data Sheet

RBRC06251

Strain Information

Image
BRC No.RBRC06251
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.Cg-Ret<tm1Mat> Ptch1<tm1Mps>
Former Common nameRet YF; Ptch1 KO, B6-RetYF KI/Ptch1 KO
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentRet Y1062F knock-in: Developed by Masahide Takahashi, Nagoya University Graduate School of Medicine. Ptch1 KO: Developed by Matthew Scott, Stanford University School of Medicine.
Strain descriptionRet Y1062F knock-in and Ptch1 KO double mutant mice. The Ret Y1062F knock-in allele consists of two amino acid replacement (KLY<1062> to KIF<1062>) within exon 19 and a floxed PGK-neo cassette inserted into intron 19. Part of exon 1 and all of exon 2 of Ptch1 gene were replaced with a lacZ-neo cassette in the Ptch1 KO allele.
Colony maintenanceRet: Heterozygote x Wild-type; Ptch1: Heterozygote x Wild-type [or Crossing to C57BL/6JJmsSlc]
References
Altered neural cell fates and medulloblastoma in mouse patched mutants.
Goodrich L V, Milenkovic L, Higgins K M, Scott M P
Science, 277, 1109-1113 (1997). 9262482

A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia.
Jijiwa M, Fukuda T, Kawai K, Nakamura A, Kurokawa K, Murakumo Y, Ichihara M, Takahashi M
Mol. Cell Biol., 24, 8026-8036 (2004). 15340065

c-Ret-mediated hearing loss in mice with Hirschsprung disease.
Ohgami N, Ida-Eto M, Shimotake T, Sakashita N, Sone M, Nakashima T, Tabuchi K, Hoshino T, Shimada A, Tsuzuki T, Yamamoto M, Sobue G, Jijiwa M, Asai N, Hara A, Takahashi M, Kato M
Proc. Natl. Acad. Sci. USA, 107(29), 13051-13056 (2010). 20616061

Health Report

Examination Date / Room / Rack2023/04/10Room:3-ARack:JSentinel mouse program

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Ptch1
MGI:105373		patched 113Ptch1<tm1Mps>
MGI:857447		targeted mutation 1, Matthew P Scott
  • basal cell carcinoma, susceptibility to, 1(MedGEN)

  • holoprosencephaly 7(MedGEN)

  • medulloblastoma(DisGeNET)
    • more 1 Diseases
  • nevoid basal cell carcinoma syndrome(DisGeNET, MedGEN)
    • lacZ beta-galactosidase (E. coli)13
    neo neomycin resistance gene (E. coli)13
    Ret
    MGI:97902    		ret proto-oncogene6Ret<tm1Mat>
    MGI:3055332    		targeted mutation 1, Masahide Takahashi
  • familial medullary thyroid carcinoma(DisGeNET, MedGEN)

  • Hirschsprung disease, susceptibility to, 1(MedGEN)

  • multiple endocrine neoplasia type 2A(DisGeNET, MedGEN)
    • more 3 Diseases
  • multiple endocrine neoplasia type 2B(DisGeNET, MedGEN)

  • pheochromocytoma(MedGEN)

  • thyroid gland carcinoma(DisGeNET)
    • loxP phage P1 loxP6loxP
    loxP phage P1 loxP6loxP
    neo neomycin resistance gene (E. coli)6 mouse phosphoglycerate kinase promoter (PGK promoter)

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal cerebellar molecular layer(MP:0000889)

  • abnormal colon morphology(MP:0000495)

  • abnormal craniofacial morphology(MP:0000428)

  • abnormal enteric ganglia morphology(MP:0001045)

  • abnormal enteric nervous system morphology(MP:0001044)
    • more 41 phenotypes
  • abnormal heart development(MP:0000267)

  • abnormal interparietal bone morphology(MP:0000077)

  • abnormal lambdoid suture morphology(MP:0003841)

  • abnormal neurocranium morphology(MP:0000074)

  • abnormal parietal bone morphology(MP:0000109)

  • abnormal small intestine morphology(MP:0000496)

  • abnormal sternum morphology(MP:0000157)

  • abnormal ureteric bud morphology(MP:0006032)

  • absent presphenoid bone(MP:0004449)

  • alisphenoid bone hypoplasia(MP:0004460)

  • decreased kidney weight(MP:0003918)

  • distended abdomen(MP:0001270)

  • embryonic lethality during organogenesis, complete penetrance(MP:0011098)

  • embryonic lethality, complete penetrance(MP:0011092)

  • exencephaly(MP:0000914)

  • focal hair loss(MP:0000418)

  • increased basal cell carcinoma incidence(MP:0004208)

  • increased body size(MP:0001264)

  • increased gastrointestinal tumor incidence(MP:0010279)

  • increased hemangiosarcoma incidence(MP:0003667)

  • increased incidence of tumors by UV-induction(MP:0004501)

  • increased incidence of tumors by ionizing radiation induction(MP:0004500)

  • increased lymphoma incidence(MP:0012431)

  • increased medulloblastoma incidence(MP:0006283)

  • increased rhabdomyosarcoma incidence(MP:0002036)

  • increased skin tumor incidence(MP:0010300)

  • increased tumor incidence(MP:0002020)

  • kidney cyst(MP:0003675)

  • kinked tail(MP:0000585)

  • lethality throughout fetal growth and development, incomplete penetrance(MP:0011109)

  • mandibular coronoid process hypoplasia(MP:0030285)

  • open neural tube(MP:0000929)

  • palatal shelf hypoplasia(MP:0009883)

  • polydactyly(MP:0000562)

  • postnatal growth retardation(MP:0001732)

  • postnatal lethality, complete penetrance(MP:0011085)

  • preaxial polydactyly(MP:0009743)

  • premature death(MP:0002083)

  • scapular bone foramen(MP:0004342)

  • small basisphenoid bone(MP:0004462)

  • syndactyly(MP:0000564)
    • Detailed phenotype data

    Ordering Information

    Donor DNAphage P1 LoxP sites, Mus musclus phosphoglycerate kinase promoter (PGK promoter), Escherichia coli Neomycin resistance gene, mouse Ret genomic DNA, Escherichia coli LacZ gene, mouse Ptch1 genomic DNA
    Research applicationCre/loxP system
    Fluorescent Proteins/lacZ System
    Specific Term and ConditionsPrior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form. For use of the BIOLOGICAL RESOURCE by a for-profit institution, the RECIPIENT must reach agreement on terms and conditions of use of it with DEPOSITOR and must obtain a prior written consent from the DEPOSITOR. 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.
    DepositorMasashi Kato (Chubu University)
    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)
    Cryopreserved embryos (within 1 month)
    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)
    4. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    Shiohama T, Uchikawa H, Nitta N, Takatani T, Matsuda S, Ortug A, Takahashi E, Sawada D, Shimizu E, Fujii K, Aoki I, Hamada H.
    Brain morphological analysis in mice with hyperactivation of the hedgehog signaling pathway.
    Front Neurosci 18 1449673(2024) 39290714