Strain Data Sheet

RBRC06166

Strain Information

Image
BRC No.RBRC06166
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129-Ece1<tm1Reh>
Former Common nameECE-1 KO/129, B6-Ece1 KO
H-2 Haplotype
ES Cell lineSM1[129S6/SvEvTac]
Background strain
Appearance
Strain developmentDeveloped by Masashi Yanagisawa, The University of Texas Southwestern Medical Center. SM1 ES cells were used to generate the mutant mice. 129 and C57BL/6 mixed background.
Strain descriptionECE-1 (Ece1 / endothelin converting enzyme 1) gene knockout mice. Exon was replaced with a neomycin resistant cassette.
Colony maintenanceHeterozygote x Wild-type [C57BL/6J(Crlj)]
References
Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene.
Yanagisawa H, Yanagisawa M, Kapur R P, Richardson J A, Williams S C, Clouthier D E, de Wit D, Emoto N, Hammer R E
Development, 125, 825-836 (1998). 9449665

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Ece1
MGI:1101357		endothelin converting enzyme 14Ece1<tm1Reh>
MGI:2158947		targeted mutation 1, Robert E Hammer
  • essential hypertension, genetic(MedGEN)

  • Hirschsprung disease, cardiac defects, and autonomic dysfunction(MedGEN)
    • GH Growth hormone polyA (Bovine)4GH
    neo neomycin resistance gene (E. coli)4 mouse RNA polymerase II promoter

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • aberrant origin of the right subclavian artery(MP:0010465)

  • abnormal Harderian gland pigmentation(MP:0003798)

  • abnormal artery morphology(MP:0002191)

  • abnormal ascending aorta morphology(MP:0009867)

  • abnormal choroid melanocyte morphology(MP:0010191)
    • more 44 phenotypes
  • abnormal epidermal melanocyte morphology(MP:0009388)

  • abnormal fourth pharyngeal arch artery morphology(MP:0006354)

  • abnormal heart and great artery attachment(MP:0010426)

  • abnormal sixth pharyngeal arch artery morphology(MP:0006355)

  • abnormal skeleton morphology(MP:0005508)

  • abnormal styloid process morphology(MP:0008023)

  • abnormal submandibular duct morphology(MP:0009525)

  • abnormal temporal bone squamous part morphology(MP:0004423)

  • abnormal third pharyngeal arch artery morphology(MP:0006356)

  • abnormal vasodilation(MP:0001613)

  • absent Meckel's cartilage(MP:0004439)

  • absent enteric neurons(MP:0001048)

  • absent external auditory canal(MP:0009707)

  • absent incus(MP:0004318)

  • absent malleus(MP:0004319)

  • absent middle ear ossicles(MP:0000040)

  • absent right subclavian artery(MP:0010486)

  • absent stapes(MP:0004204)

  • absent sublingual duct(MP:0010720)

  • absent tongue(MP:0009905)

  • absent tympanic ring(MP:0003138)

  • alisphenoid bone hypoplasia(MP:0004460)

  • decreased atrioventricular cushion size(MP:0000301)

  • double aortic arch(MP:0004159)

  • double outlet right ventricle(MP:0000284)

  • embryonic lethality during organogenesis, incomplete penetrance(MP:0011108)

  • enlarged heart(MP:0000274)

  • hydrops fetalis(MP:0002192)

  • interrupted aortic arch(MP:0004157)

  • mandible hypoplasia(MP:0000460)

  • neonatal lethality, complete penetrance(MP:0011087)

  • overriding aortic valve(MP:0000273)

  • palatine bone hypoplasia(MP:0004475)

  • parathyroid hypoplasia(MP:0003494)

  • pericardial effusion(MP:0005312)

  • perimembraneous ventricular septal defect(MP:0010418)

  • persistent cervical thymus(MP:0010722)

  • persistent ductus caroticus(MP:0012310)

  • persistent right dorsal aorta(MP:0010572)

  • persistent truncus arteriosus(MP:0002633)

  • small mandible(MP:0004592)

  • temporal bone squamous part hypoplasia(MP:0030122)

  • thyroid gland hypoplasia(MP:0003499)

  • ventricular septal defect(MP:0010402)
    • Detailed phenotype data

    Ordering Information

    Donor DNAE. coli Neomycin resistance gene, mouse RNA polymerase II promoter, bovine growth hormone polyadenylation site, mouse Ece1 genomic DNA
    Research applicationDevelopmental Biology Research
    Hematological Research
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Development, 125, 825-836 (1998).Depositor limits the use of the BIOLOGICAL RESOURCE to not-for-profit institutions. Depositor limits the use of the BIOLOGICAL RESOURCE to academic purposes. For-profit institutions and recipients who intend to use BIOLOGICAL RESOURCE for commercial research purposes shall acquire prior written consent from the Depositor. Recipient shall acquire prior written consent from the Depositor prior to filing an application for patent, or intellectual property or other rights based on the results of research using the BIOLOGICAL RESOURCE.
    DepositorMasashi Yanagisawa (University of Texas Southwestern Medical Center at Dallas)
    Strain Statusan icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (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

    No Data