Strain Detail Sheet

Strain Name    :

C57BL/6J-Tomtm1Btlr/Mmucd

Stock Number :

030528-UCD

Other Names   :

add, C57BL/6J-Tomtm1Btlr/Mmcd

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Tomtm1Btlr
Name: mutation 1, Bruce Beutler
Alteration at locus: Chemically Induced
Gene Symbol: Tomt
Name: transmembrane O-methyltransferase
Chromosome: 7
Alteration at locus: Chemically Induced

Genetic Alterations:
The add mutation was mapped to Chromosome 7 and is a G to T transversion in exon 2 of 4 exons. This substitutes an arginine for a leucine at position 48 of the 258 amino acid peptide.

Genotype Determination:

ES Cell Line: Not Applicable

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

Phenotype

Homozygous phenotype: Homozygous mice show marked hyperactivity and as well as bidirectional circling and head- tossing. These behavioral abnormalities are suppressed by sleep. Homozygous females often do not take care of their pups.

Heterozygous phenotype: None


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype
Tomtm1Btlr/Tomtm1Btlr
        C57BL/6J-Tomt<m1Btlr>
  • behavior/neurological phenotype
    • absent startle reflex (MGI Ref ID J:137493)
      • at 8 weeks of age, mutant mice exhibit no acoustic startle response to a 120 dB sound
    • bidirectional circling (MGI Ref ID J:137493)
      • this behavior is suppressed when the mice are sleeping or nursing
      • evident by three weeks of age
    • head tossing (MGI Ref ID J:137493)
      • this behavior is suppressed when the mice are sleeping or nursing
      • mutant mice exhibit repetitive brief backward bending of the neck so that the head's long axis is vertical ("stargazing")
    • hyperactivity (MGI Ref ID J:137493)
      • this behavior is suppressed when the mice are sleeping or nursing
      • evident by three weeks of age
    • impaired balance (MGI Ref ID J:137493)
      • mutant mice perform poorly in the lateral beam test
    • increased aggression towards males (MGI Ref ID J:137493)
      • homozygous mutant male mice caged together exhibit heightened inter-male aggression, fighting with and inflicting wounds on each other
  • hearing/vestibular/ear phenotype
    • abnormal orientation of cochlear hair cell stereociliary bundles (MGI Ref ID J:137493)
      • revealed by scanning electron microscopy in four day old mice
    • absent brainstem auditory evoked potential (MGI Ref ID J:137493)
      • 8 week old mutant mice exhibit no acoustic brainstem response (ABR) at 90 dB, vs. an ABR threshold of ~40 dB in wild-type control mice
    • absent distortion product otoacoustic emissions (MGI Ref ID J:137493)
      • the DPOAE of 8 week old mutant mice in response to stimuli at 0-70 dB and 6-28 kHz is within noise level
    • absent startle reflex (MGI Ref ID J:137493)
      • at 8 weeks of age, mutant mice exhibit no acoustic startle response to a 120 dB sound
    • cochlear inner hair cell degeneration (MGI Ref ID J:137493)
      • progressive loss of inner hair cells (IHC)
    • cochlear outer hair cell degeneration (MGI Ref ID J:137493)
      • progressive loss of outer hair cells
    • deafness (MGI Ref ID J:137493)
    • organ of Corti degeneration (MGI Ref ID J:137493)
      • mutant mice exhibit progressive degeneration of the organ of Corti
      • in five day old mice the inner ear appears histologically normal by light microscopy, but by 8 weeks severe degenerative changes are evident
  • nervous system phenotype
    • nervous system phenotype (MGI Ref ID J:137493)
      • the cerebra of mutant mice appear histologically normal by light microscopy
      • abnormal orientation of cochlear hair cell stereociliary bundles (MGI Ref ID J:137493)
        • revealed by scanning electron microscopy in four day old mice
      • cochlear ganglion degeneration (MGI Ref ID J:137493)
        • the density of spiral ganglion neurons appears normal in four day old mice, but has decreased by 8 weeks
      • cochlear inner hair cell degeneration (MGI Ref ID J:137493)
        • progressive loss of inner hair cells (IHC)
      • cochlear outer hair cell degeneration (MGI Ref ID J:137493)
        • progressive loss of outer hair cells
  • growth/size phenotype
    • decreased body weight (MGI Ref ID J:137493)
      • homozygous mutant mice are leaner than their unaffected littermates; this may be due to their higher activity level


The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
Tomtm1Btlr/Tomtm1Btlr
        involves: C3H/HeN * C57BL/6J
  • behavior/neurological phenotype
    • bidirectional circling (MGI Ref ID J:137493)
      • evident by three weeks of age
    • head tossing (MGI Ref ID J:137493)
      • mutant mice exhibit brief, repetitive backward bending of the neck so that the head's long axis is vertical ("stargazing")
    • hyperactivity (MGI Ref ID J:137493)
      • evident by three weeks of age
    • increased aggression towards males (MGI Ref ID J:137493)
      • homozygous mutant male mice caged together exhibit heightened inter-male aggression, fighting with and inflicting wounds on each other
  • growth/size phenotype
    • decreased body weight (MGI Ref ID J:137493)
      • homozygous mutant mice are leaner than their unaffected littermates; this may be due to their higher activity level

Strain of Origin: C57BL/6J

Strain genetic background: C57BL/6J

Strain Development: The add mutation was induced by ENU mutagenesis on the C57BL/6J background and was discovered in G3 animals. All subsequent crosses to maintain strain were on a C57BL/6J background.

Suggested Control Mice:

  • Wildtype littermates

Research Applications

  • Models for Human Disease
  • Neurobiology
  • Sensorineural

Strain Origin

Donor: Bruce Beutler, M.D., The Scripps Research Institute

Primary Reference:

  • Du X; Schwander M; Moresco EM; Viviani P; Haller C; Hildebrand MS; Pak K; Tarantino L; Roberts A; Richardson H; Koob G; Najmabadi H; Ryan AF; Smith RJ; Muller U; Beutler B, A catechol-O-methyltransferase that is essential for auditory function in mice and humans., Proc Natl Acad Sci U S A 2008 Sep 23;105(38):14609-14 (Medline PMID: 18794526)
  • For additional information see: Mutagenetix, a catalog of mutations identified in the Beutler Laboratory at The Scripps Research Institute.)

Colony and Husbandry Information

Special Considerations

Donor notes homozygous females do not take care of pups.

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.

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
030528-UCD-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.
030528-UCD-SPERMCryo-preserved spermatozoa
$437.00
Non-Profit
Aliquot Approximate quantity.2
030528-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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