Strain Name:
C57BL/6J-Tomtm1Btlr/Mmucd
Stock Number:
030528-UCD
Citation ID:
RRID:MMRRC_030528-UCD
Other Names:
add, C57BL/6J-Tomtm1Btlr/Mmcd
Major Collection:

Strain Information

Tomtm1Btlr
Name: transmembrane O-methyltransferase; mutation 1, Bruce Beutler
Synonyms: add
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Chemically Induced
Tomt
Name: transmembrane O-methyltransferase
Synonyms: F930017I19Rik, Comt2
Type: Gene
Species: Mouse
Chromosome: 7
Alteration at locus: Chemically Induced
NCBI: 791260
Homologene: 19664
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
Phenotype
Homozygous: 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: Same as wild-type.
Mammalian Phenotype Terms
Allelic Composition: Tomtm1Btlr/Tomtm1Btlr (Genetic Background: C57BL/6J-Tomtm1Btlr )

Allelic Composition: Tomtm1Btlr/Tomtm1Btlr (Genetic Background: involves: C3H/HeN * C57BL/6J )

MeSH Terms
  • Amino Acid Sequence
  • Animals
  • Catechol O-Methyltransferase/chemistry
  • Catechol O-Methyltransferase/genetics
  • Catechol O-Methyltransferase/metabolism
  • Cochlea/enzymology
  • Deafness/enzymology
  • Deafness/genetics
  • Gene Expression Regulation
  • Hair Cells, Auditory, Inner/enzymology
  • Hair Cells, Auditory, Outer/enzymology
  • Hearing/genetics
  • Humans
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Organ of Corti/enzymology
  • Organ of Corti/pathology
  • Pedigree
  • Point Mutation
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

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@ucdavis.edu. Older strains may not have this information.
  • Models for Human Disease
  • Neurobiology
  • Sensorineural
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

Donor notes homozygous females do not take care of pups.

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@ucdavis.edu.

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@ucdavis.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
030528-UCD-EMBRYO Cryo-preserved embryos $1,038.00 / Non-Profit Aliquot Approximate quantity2 : 20-40 embryos / aliquot
030528-UCD-SPERM Cryo-preserved spermatozoa $546.25 / Non-Profit Aliquot Approximate quantity3
030528-UCD-RESUS Litter recovered from cryo-archive $4,044.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.

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.