Strain Data Sheet

RBRC06249

Strain Information

Image
BRC No.RBRC06249
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129-Ret<tm1Mat>
Former Common nameB6-Ret YF KI, B6-Ret/YF KI
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Masahide Takahashi, Nagoya University Graduate School of Medicine. ES cells derived from 129 were used for generation of the mice. The mutant mice were backcrossed to C57BL/6 over 16 times.
Strain descriptionRet Y1062F variant knock-in mice having two amino acid replacement (KLY<1062> to KIF<1062>) within exon 19 and a floxed PGK-neo cassette inserted into intron 19. Homozygous mutant mice are born normally, but exhibit megacolon and deafness and die by day 27 after birth.
Colony maintenanceHeterozygote x Wild-type [C57BL/6JJmsSlc]
References
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 / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
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 colon morphology(MP:0000495)

  • abnormal enteric ganglia morphology(MP:0001045)

  • abnormal enteric nervous system morphology(MP:0001044)

  • abnormal small intestine morphology(MP:0000496)

  • abnormal ureteric bud morphology(MP:0006032)
    • more 5 phenotypes
  • decreased kidney weight(MP:0003918)

  • distended abdomen(MP:0001270)

  • kidney cyst(MP:0003675)

  • postnatal growth retardation(MP:0001732)

  • postnatal lethality, complete penetrance(MP:0011085)
    • Detailed phenotype data

    Ordering Information

    Donor DNAphage P1 LoxP sites, Mus musclus PGK promoter, Escherichia coli Neomycin resistance gene, mouse Ret genomic DNA
    Research applicationCre/loxP system
    Mouse Models for Human Disease
    Sensorineural Research
    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

    No Data