Strain Detail Sheet

Strain Name    :

C3;B6-Twist1Ska10/Mmucd

Stock Number :

000108-UCD

Other Names   :

Charlie Chaplin, Skam10Jus, C3;B6-Twist1Ska10/Mmcd

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Twist1Ska10
Name: skeletal/axial 10
Chromosome: 12
Alteration at locus: Chemically Induced
Gene Symbol: Twist1
Name: twist basic helix-loop-helix transcription factor 1
Chromosome: 12
Alteration at locus: Chemically Induced

Genetic Alterations:
This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. Genomic sequencing revealed a T-C base-pair change in that resulted in a Ser192Pro amino acid substitution in the Twist box of the encoded protein. A mutant protein is expressed from this allele, but in an immunoprecipitation assay, CC mutant protein interacted poorly with Runx2 compared to the wild-type protein.

Genotype Determination:

    ES Cell Line: Not Applicable

    Strain Description [Including phenotype, strain background, strain development and suggested control mice]

    Phenotype

    Homozygous: Lethal
    Heterozygous: Preaxial polydactyly. Affected animals have 6-7 digits on hind feet. In some cases both feet are affected. Extra digits will sometimes curl towards the foot to form a claw like digit.


    Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
          assigned by genotype

    The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
    Twist1Ska10/Twist1+
            C57BL/6J-Twist1<Ska10>
    • limbs/digits/tail phenotype
      • polydactyly (MGI Ref ID J:90056)
        • heterozygotes have extra digits on both hindlimbs
    • skeleton phenotype
      • premature suture closure (MGI Ref ID J:90056)
        • heterozygotes exhibit craniosynostosis with irregular lamboidal and coronal suture lines; at P10, mutant skulls have abnormally closed sutures
    Twist1Ska10/Twist1+
            involves: C57BL/6J
    • behavior/neurological phenotype
      • abnormal gait (MGI Ref ID J:89098)
        • splayed gait
    • growth/size phenotype
      • decreased body size (MGI Ref ID J:89098)
        • reported to be small
    • limbs/digits/tail phenotype
      • abnormal skeleton extremities morphology (MGI Ref ID J:89098)
        • shortened, widened long bones
      • polydactyly (MGI Ref ID J:89098)
        • polydactyl hind feet
    • skeleton phenotype
      • abnormal skeleton extremities morphology (MGI Ref ID J:89098)
        • shortened, widened long bones
    Twist1Ska10/Twist1Ska10
            C57BL/6J-Twist1<Ska10>
    • mortality/aging
      • complete neonatal lethality (MGI Ref ID J:90056)
        • homozygotes die immediately after birth
    • limbs/digits/tail phenotype
      • polydactyly (MGI Ref ID J:90056)
        • at E16, homozygotes display polydactyly of the hindlimbs
      • short limbs (MGI Ref ID J:90056)
        • at E16, homozygotes have short limbs relative to wild-type mice
    • skeleton phenotype
      • abnormal bone ossification (MGI Ref ID J:90056)
        • at E16, mutant (but not wild-type) ribs are surrounded by a thick bone collar and contain bone trabeculae in the diaphysis, indicating advanced bone formation
        • premature endochondral bone ossification (MGI Ref ID J:90056)
          • at E14 and E15, mutant ribs show a slight increase in hypertrophic chondrocytes relative to wild-type ribs
          • at E16, chondrocyte hypertrophy is markedly increased in wild-type ribs but noticeably reduced in mutant ribs
      • abnormal clavicle morphology (MGI Ref ID J:90056)
        • beginning at E15, homozygotes exhibit a consistently thicker bone collar relative to wild-type mice
      • abnormal osteoblast differentiation (MGI Ref ID J:90056)
        • in mutant ribs, accelerated endochondral ossification l eads to premature osteoblast differentiation
      • abnormal rib morphology (MGI Ref ID J:90056)
        • histologically, E15 mutant ribs resemble E16 rather than E15 wild-type ribs; osteocalcin is detected as early as E15 in mutant ribs but remains absent in wild-type E15 and 16 ribs
        • at E18, wild-type and mutant ribs are comparable in morphology, although mutant ribs have a thicker bone collar and consistently contain more trabeculae relative to wild-type
    • nervous system phenotype
      • nervous system phenotype (MGI Ref ID J:90056)
        • at E16, homozygotes do NOT display any overt neural tube defects

    Strain of Origin: C57BL/6

    Strain genetic background: C3H;B6

    Strain Development: For strain development, view: http://www.mouse-genome.bcm.tmc.edu/ENU/ENUexperiment.asp#Balancer

    Suggested Control Mice:

    • Wild-type littermates

    Research Applications

    • Birth defects

    Strain Origin

    Donor: Monica J. Justice, Ph.D., Baylor College of Medicine

    Primary Reference:

    Kile BT, Hentges KE, Clark AT, Nakamura H, Salinger AP, Liu B, Box N, Stockton DW, Johnson RL, Behringer RR, Bradley A, Justice MJ. Functional genetic analysis of mouse chromosome 11. Nature. 2003 Sep 4;425(6953):81-6. (Medline PMID: 12955145)

    Colony and Husbandry Information

    Special Considerations

    None

    Health Status Report

    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@ucdavis.edu.

    Appearance

    Coat color: Agouti

    Other:

    Breeding

    MMRRC Breeding System: Backcrossing or Sib-mated
    Please note: The MMRRC has always maintained this strain in a cryopreserved format. Information in the "Breeding" and "Reproductive statistics" sections has been provided by the Donating Investigator

    Breeding Scheme(s):

    • C3H female x Heterozygous male
    • Heterozygous female x Heterozygous male or reciprical 

    Generation: Unknown

    Overall Breeding Performance: Good

    Reproductive Statistics

    Viability and Fertility:FemaleMale
    Homozygotes are viable: No No
    Homozygotes are fertile: No No
    Heterozygotes are fertile: Yes Yes

    Age Reproductive Decline: Unknown Unknown

    Average litter size: 6

    Recommended wean age: 3 weeks

    Order Request Information

    Availability Level

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

    Conditions of Distribution [Including applicable technology transfer agreements]

    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.

    Fees

    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 $)
    Units Notes
    000108-UCD-RESUSLitter recovered from cryo-archive
    $2,022.00
    Non-Profit
    Litter Recovered litter1; additional fees for any special requests.
    000108-UCD-SPERMCryo-preserved spermatozoa
    $437.00
    Non-Profit
    Aliquot Approximate quantity.2
    000108-UCD-EMBRYOCryo-preserved embryos
    $1,038.00
    Non-Profit
    Aliquot Approximate quantity3: 20-40 embryos / aliquot

    1 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.

    2 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.

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

    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 above). 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.



    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.



    The MMRRC is a collaborative effort, funded by grants from DPCPSI of the NIH.

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