Strain Name:
CAn.129(Cg)-Deaf1tm1.2Mico/Mmnc
Stock Number:
037370-UNC
Citation ID:
RRID:MMRRC_037370-UNC
Other Names:
DEAF1

Strain Information

Deaf1tm1.2Mico
Name: DEAF1, transcription factor; targeted mutation 1.2, Michael Collard
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Knockout
Deaf1
Name: DEAF1, transcription factor
Synonyms: C230009B13Rik, NUDR, suppressin
Type: Gene
Species: Mouse
Chromosome: 7
Alteration at locus: Knockout
NCBI: 54006
Homologene: 9647
Genetic Alterations
The targeting vector contained a 10.1 Kb NotI/EcoRI fragment of Deaf1 with a loxP sequence inserted into the NheI site of intron 2, a neomycin gene cassette (Neo) flanked with loxP sites inserted into the PmlI site of intron 5, and a diptheria toxin (DT) gene cassette inserted at the 3' end of the construct. Exons 2- 5 were deleted by breeding to B6.Cg-Tg(Nes-cre)1Kln/J that produced a spurious germ line deletion.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    Not specified
    Phenotype

    Homozygous: Exencephaly; Abnormal neural tube closure.

    Heterozygous: Exencephaly; Abnormal neural tube closure.

    Mammalian Phenotype Terms
    Allelic Composition: Deaf1tm1.2Mico/Deaf1tm1.2Mico (Genetic Background: B6.129-Deaf1tm1.2Mico )

    MeSH Terms
    • Amino Acid Sequence
    • Animals
    • Child
    • Cohort Studies
    • DNA Mutational Analysis
    • Female
    • Humans
    • Intellectual Disability/genetics
    • Male
    • Mental Disorders/genetics
    • Mice
    • Mice, Knockout
    • Molecular Sequence Data
    • Mutation
    • Nuclear Proteins/genetics
    • Protein Structure, Tertiary/genetics
    • Speech Disorders/genetics
    • Transcription Factors
    Strain Development
    Correctly targeted ES cells derived from a 129 substrain were injected into C57BL/6 blastocysts to produce chimeric mice exhibiting germ line transmission of the 3lox allele. One mouse heterozygous for the 3lox allele was backcrossed for nine generations onto a C57BL/6JOlaHsd strain background and was then interbred to mice transgenic for the EIIa-Cre gene, B6.FVB-Tg(EIIa-cre)C5379Lmgd/J. This resulted in partial recombination of loxP sites and removal of the neomycin cassette to produce a Deaf1 2lox or floxed allele with the genotype Deaf1+/fl. The offspring were backcrossed again to C57BL/6 to assure congenic status, and subsequent Deaf1+/fl mice were inbred for more than 3 generations. These mice were bred to B6.Cg-Tg(Nes-cre)1Kln/J, then inbred for 3 generations. A mouse was identified that had a spurious germ line deletion of exons 2-5. This mouse was bred to BALB/cAnNHsd and subsequent offspring have been backcrossed an additional 8 generations on the same BALB/cAnNHsd background.
    Suggested Control Mice
    Wild-type littermates or BALB/cAnNHsd mice
    MMRRC Genetic QC Summary
    The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@med.unc.edu. Older strains may not have this information.
    • Apoptosis
    • Cancer
    • Cell Biology
    • Developmental Biology
    • Diabetes
    • Immunology and Inflammation
    • Models for Human Disease
      • Type I Diabetes
      • Major Depressive Disorder
    • Neurobiology
    Donor
    Michael Collard, Ph.D., Southern Illinois University School of Medicine.
    Primary Reference

    Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T,Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014 May 1;94(5):649-61. Epub 2014 Apr 10. (Medline PMID: 24726472)

    Colony and Husbandry Information

    Colony Surveillance Program and Current Health Reports

    Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc_health@med.unc.edu.
    Coat Color
    White
    MMRRC Breeding System
    Backcross
    Breeding Scheme(s)

    Wild-type (BALB/cAnNHsd) female x Heterozygous male or reciprocal mating

    Generation
    N9
    Overall Breeding Performance
    Excellent
    Viability and Fertility: Female Male Comments
    Homozygotes are viable: Reduced Reduced
    Homozygotes are fertile: Undetermined Undetermined
    Heterozygotes are fertile: Yes Yes
    Age Reproductive Decline: 6 months 5 months
    Average litter size
    5-9
    Recommended wean age
    3-4 weeks

    Order Request Information

    Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

    The donor or their institution limits the distribution to non-profit institutions only.

    Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

    Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
    MMRRC Item # Description Distribution Fee / Unit (US $)
    *Shipping & Handling not included*
    Units Notes
    037370-UNC-SPERM Cryo-preserved spermatozoa $564.00 / Non-Profit Aliquot Approximate quantity3
    037370-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

    2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

    3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

    4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

    To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.