Strain Detail Sheet

Strain Name    :

CBACa.129S4(Cg)-Cochtm1Mrtn/Mmnc

Stock Number :

030022-UNC

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Target: Cochtm1Mrtn
Name: targeted mutation 1, Cynthia C Morton
Alteration at locus: Knock-In
Target: Coch
Name: coagulation factor C homolog (Limulus polyphemus)
Chromosome: 12
Alteration at locus: Knock-In

Genetic Alterations:
Neo cassette was inserted into intron 5, but subsequently removed, with one remaining lox site (and some polylinker sequence). A one base pair mutation in exon 5, resulting in G88E amino acid change was introduced.

Genotype Determination:

  • The genotyping protocol for this strain is currently not available. The MMRRC will develop a protocol if this strain is ordered.

ES Cell Line: J1 derived from 129S4/SvJae

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

Phenotype

Homozygous phenotype: Vestibular (inner ear, balance) deficits as measured by vestibular evoked potentials. Slightly elevated auditory brain stem repsonse thresholds. Degeneration of fibrocytes in inner ear with possible reduced cochlear function.

Heterozygous phenotype: Heterozygotes appear to have vestibular deficits as measure by vestibular evoked potentials.


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype
Cochtm1Mrtn/Coch+
        CB.129S4-Coch<tm1Mrtn>
  • hearing/vestibular/ear phenotype
    • decreased brainstem auditory evoked potential (MGI Ref ID J:167669)
      • increase in ABR threshold is similar to homozygous mutant mice
Cochtm1Mrtn/Cochtm1Mrtn
        CB.129S4-Coch<tm1Mrtn>
  • hearing/vestibular/ear phenotype
    • abnormal distortion product otoacoustic emission (MGI Ref ID J:140594)
      • mice at 19 months have slightly reduced DPOAE for the mid-frequencies (5-10 dB smaller)
      • 21 months of age, DPOAEs are substantially smaller (up to 30 dB)
      • 6 of 8 mice at 21 months of age have no detectable DPOAE at the maximum stimulus levels of 32 and 41 kHz frequencies
    • absent brainstem auditory evoked potential (MGI Ref IDs J:140594, J:167669)
      • decreased or absent at all frequencies at 21 months of age (MGI Ref ID J:167669)
      • 4 of 8 mice have no detectable ABR at all frequencies tested (MGI Ref ID J:140594)
    • decreased brainstem auditory evoked potential (MGI Ref IDs J:140594, J:167669)
      • ABR thresholds are substantially higher than for wild-types at 21 months of age (MGI Ref ID J:140594)
      • 6 of 8 mice at 21 months of age have no detectable ABR at the maximum stimulus levels of 32 and 41 kHz frequencies (MGI Ref ID J:140594)
      • decreased or absent at all frequencies at 21 months of age (MGI Ref ID J:167669)
      • increase in the ABR threshold can be detect ed at 19 months of age (MGI Ref ID J:167669)
    • reduced linear vestibular evoked potential (MGI Ref ID J:167669)
      • increase in VsEP thresholds at 7 months of age but not at 5 months of age
    • reduced linear vestibular evoked potential (MGI Ref ID J:140594)
      • VsEP thresholds are elevated in mice spanning in age from 11 to 21 months
      • these thresholds get higher with age
      • at 19 and 21 months of age, 2 of 3 mice have no detectable VsEP

Strain of Origin: 129SvJ and C57BL/6

Strain genetic background: CBA/CaJ

Strain Development: The original mutant mouse was crossed to EIIa/cre expressing mice (C57BL/6 background). Subsequent to this cross, 11 crosses have been performed to the CBA/CaJ strain.

Suggested Control Mice:

  • Wildtype littermates

Research Applications

  • Models for Human Disease
  • Sensorineural
  • Hearing and Balance

Strain Origin

Donor: Cynthia C. Morton, Ph.D., Brigham and Women's Hospital Harvard Medical School

Primary Reference:

Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet. 2008 Aug 12. [Epub ahead of print] (Medline PMID: 18697796)

Colony and Husbandry Information

Special Considerations

Donor suggests: Coss into CBA/CaJ which have good hearing at late ages, in order to prevent confounding analysis of hearing at advanced ages.

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_health@med.unc.edu.

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
030022-UNC-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.

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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