Strain Name:

CBA.Cg-Tmc1dn/AjgJ

Stock Number:

006169

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Homozygotes for this spontaneous mutation exhibit degeneration in the spiral ganglion neurons as well as the organ of Corti and the saccular macula. Mice are deaf throughout life. This strain may be used to research inherited deafness.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
Background Strain CBA/J
Donor Strain STOCK ct
H2 Haplotypek
GenerationN5+F1pN1
Generation Definitions
 
Donating InvestigatorDr. Andrew J. Griffith,   NIDCD/NIH

Appearance
agouti
Related Genotype: A/A

Description
Homozygotes for this spontaneous mutation exhibit degeneration in the spiral ganglion neurons as well as the organ of Corti and the saccular macula. Mice are deaf throughout life. This strain may be used to research inherited deafness.

Development
This spontaneous mutation arose on a curly tail stock maintained by M.S. Deol and W Kocher at the MRC for Experimental Research in Inherited Diseases, University College, London in 1958. Prior to 1980, the colony was transferred to the MRC Institute of Hearing Research, Nottingham, UK and maintained as a heterogenous closed colony. Presumably in the late 1990’s, the mutation was outcrossed to CBA and transferred to Dr. Bruce Walmsley at the Australian National University in Canberra (Oleskevich S, et al. 2002). Dr. Andrew Griffith of the NIH imported the colony from Dr. Walmsley and backcrossed to CBA/J for five generations. The Jackson Laboratory Repository imported this strain in 2007.

Control Information

  Control
   000656 CBA/J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Tmc1
019146   B6.129-Tmc1tm1.1Ajg/J
View Strains carrying other alleles of Tmc1     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Deafness, Autosomal Dominant 36; DFNA36
Deafness, Autosomal Recessive 7; DFNB7
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Tmc1dn/Tmc1+

        involves: STOCK Grhl3ct * M. m. molossinus
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • no abnormal ear phenotypes detected   (MGI Ref ID J:22445)

Tmc1dn/Tmc1+

        STOCK Grhl3ct/J
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • no abnormal ear phenotypes detected   (MGI Ref ID J:14069)

Tmc1dn/Tmc1+

        Background Not Specified
  • vision/eye phenotype
  • abnormal eye size   (MGI Ref ID J:175295)
  • abnormal lens morphology   (MGI Ref ID J:175295)

Tmc1dn/Tmc1dn

        STOCK Grhl3ct/J
  • hearing/vestibular/ear phenotype
  • abnormal ear morphology   (MGI Ref ID J:1600)
    • abnormal otolith morphology
      • in some mice, the otolith membrane degenerates completely and otoliths are lost   (MGI Ref ID J:236)
    • abnormal scala media morphology
      • degeneration of most elements of the scala media complex is underway by three weeks of age   (MGI Ref ID J:236)
      • Deiters cell degeneration
        • Dieters cell boundaries become indistinct and nuclei move to different levels by 10 days of age   (MGI Ref ID J:236)
      • abnormal stria vascularis morphology
        • abnormalities can be detected at 10 days of age   (MGI Ref ID J:236)
      • abnormal tectorial membrane morphology
        • the free end of the membrane curls up rather than resting on hair cells by 10 days   (MGI Ref ID J:236)
      • organ of Corti degeneration
        • by 9 months of age, the organ is a mass of undifferentiated cells, although the tunnel of Corti does not usually collapse   (MGI Ref ID J:236)
    • vestibular saccular macula degeneration
      • some degeneration is observed in most mice   (MGI Ref ID J:236)
      • in severe cases, hair cells degenerate completely   (MGI Ref ID J:236)
  • abnormal hearing physiology   (MGI Ref ID J:1600)
    • deafness
      • mice do not respond to clicking   (MGI Ref ID J:236)
  • behavior/neurological phenotype
  • abnormal motor capabilities/coordination/movement   (MGI Ref ID J:236)
    • head tossing
      • tossing movement is observed in some mice although behavior is otherwise normal   (MGI Ref ID J:236)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • no abnormal central or peripheral nervous system phenotupes detected   (MGI Ref ID J:6806)
    • cochlear ganglion degeneration
      • spiral ganglion degeneration begins at 50 days of age   (MGI Ref ID J:236)
      • by 9 months, degeneration is nearly complete   (MGI Ref ID J:236)

Tmc1dn/Tmc1dn

        involves: STOCK Grhl3ct * M. m. molossinus
  • hearing/vestibular/ear phenotype
  • abnormal ear morphology   (MGI Ref ID J:22445)
  • abnormal hearing physiology   (MGI Ref ID J:22445)

Tmc1dn/Tmc1dn

        Background Not Specified
  • behavior/neurological phenotype
  • absent pinna reflex   (MGI Ref ID J:175295)
  • unresponsive to tactile stimuli   (MGI Ref ID J:175295)
  • integument phenotype
  • unresponsive to tactile stimuli   (MGI Ref ID J:175295)
  • vision/eye phenotype
  • abnormal eye size   (MGI Ref ID J:175295)
  • abnormal lens morphology   (MGI Ref ID J:175295)

Tmc1dn/?

        Background Not Specified
  • hearing/vestibular/ear phenotype
  • abnormal auditory brainstem response   (MGI Ref ID J:175295)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Tmc1dn related

Neurobiology Research
Hearing Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Tmc1dn
Allele Name deafness
Allele Type Spontaneous
Common Name(s) dn;
Strain of OriginSTOCK Grhl3ct/J
Gene Symbol and Name Tmc1, transmembrane channel-like gene family 1
Chromosome 19
Gene Common Name(s) 4933416G09Rik; Beethoven; Bth; DFNA36; DFNB11; DFNB7; RIKEN cDNA 4933416G09 gene; beethoven; deafness; dn;
General Note The deafness mutation was found in a stock at University College, London, one of several discovered during a systematic search for uncomplicated deafness genes. Fertility of homozygotes is normal. Homozygotes are deaf their entire life, and a few of themshow slight head-tossing (J:236). Auditory thresholds of heterozygotes are normal (J:14069). Cochlear inner hair cells of Tmc1dn/Tmc1dn homozygotes are abnormally vacuolated at birth; afferent dendrites are swollen and devoid of cytoplasmic content, and an abnormal smooth endoplasmic reticulum appeared in spiral ganglion neurons. These abnormalities greatly increased by day 7, with filamentous material in the spiral ganglion neurons (J:32691). Most of the hair cells have degenerated by 40 days of age (J:22445). The macula of the sacculus may degenerate in both the head-tossing and normal behaving mice, but remains histologically normal in many of them (J:236). Webster (J:1600) found degeneration followed by partial regenerationof the organ of Corti in Tmc1dn/Tmc1dn homozygotes. Stimulus-induced action potential in the auditory nerve is absent at all ages tested from 12 days on (J:22445). However, central auditory function is preserved as shown by evokedaction potentials in the inferior colliculus in response to direct stimulation of the cochlear nerve (J:6806). Peak-to-peak response amplitudes were greater in young and intermediate aged mutant animals than in controls (J:28899). Distortion product (2f1-f2) otoacoustic emissions generated in the cochlea have been proposed as a monitor for cochlear function. In Tmc1dn/Tmc1dn mice, emissions could not be detected, as might be expected due to the considerable cochlear damage (J:32693).
Molecular Note The mutation is a 1656 bp deletion including exon 14 and flanking intronic sequences. RT-PCR analysis confirmed that an mRNA was made that spliced exon 13 sequences in frame to exon 15 sequences. [MGI Ref ID J:75142]

Genotyping

Genotyping Information

Genotyping Protocols

Tmc1dn, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Deol MS; Kocher W. 1958. A new gene for deafness in the mouse Heredity 12:463-6.  [MGI Ref ID J:236]

Additional References

Tmc1dn related

Bock GR; Frank MP; Steel KP. 1982. Preservation of central auditory function in the deafness mouse. Brain Res 239(2):608-12. [PubMed: 7093705]  [MGI Ref ID J:6806]

Horner KC; Lenoir M; Bock GR. 1985. Distortion product otoacoustic emissions in hearing-impaired mutant mice. J Acoust Soc Am 78(5):1603-11. [PubMed: 4067076]  [MGI Ref ID J:32693]

KOCHER W. 1960. [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus).] Z Vererbungsl 91:114-40. [PubMed: 13853422]  [MGI Ref ID J:15164]

Keats BJ; Nouri N; Huang JM; Money M; Webster DB; Berlin CI. 1995. The deafness locus (dn) maps to mouse chromosome 19. Mamm Genome 6(1):8-10. [PubMed: 7719036]  [MGI Ref ID J:22445]

Kirsch JP; Money MK; Webster DB. 1993. Mice heterozygous for the deafness gene have normal auditory thresholds. Hear Res 67(1-2):51-4. [PubMed: 8340277]  [MGI Ref ID J:14069]

Kurima K; Peters LM; Yang Y; Riazuddin S; Ahmed ZM; Naz S; Arnaud D; Drury S; Mo J; Makishima T; Ghosh M; Menon PS; Deshmukh D; Oddoux C; Ostrer H; Khan S; Riazuddin S; Deininger PL; Hampton LL; Sullivan SL; Battey JF Jr; Keats BJ; Wilcox ER; Friedman TB; Griffith AJ. 2002. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 30(3):277-84. [PubMed: 11850618]  [MGI Ref ID J:75142]

Leao RN; Berntson A; Forsythe ID; Walmsley B. 2004. Reduced low-voltage activated K+ conductances and enhanced central excitability in a congenitally deaf (dn/dn) mouse. J Physiol 559(Pt 1):25-33. [PubMed: 15235085]  [MGI Ref ID J:105281]

Leao RN; Naves MM; Leao KE; Walmsley B. 2006. Altered sodium currents in auditory neurons of congenitally deaf mice. Eur J Neurosci 24(4):1137-46. [PubMed: 16930439]  [MGI Ref ID J:112908]

Leao RN; Svahn K; Berntson A; Walmsley B. 2005. Hyperpolarization-activated (I) currents in auditory brainstem neurons of normal and congenitally deaf mice. Eur J Neurosci 22(1):147-57. [PubMed: 16029204]  [MGI Ref ID J:101088]

Marcotti W; Erven A; Johnson SL; Steel KP; Kros CJ. 2006. Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. J Physiol 574(Pt 3):677-98. [PubMed: 16627570]  [MGI Ref ID J:134124]

McKay SM; Oleskevich S. 2007. The role of spontaneous activity in development of the endbulb of Held synapse. Hear Res 230(1-2):53-63. [PubMed: 17590547]  [MGI Ref ID J:123325]

Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP). 2011. Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal Database Release :.  [MGI Ref ID J:175295]

Oleskevich S; Walmsley B. 2002. Synaptic transmission in the auditory brainstem of normal and congenitally deaf mice. J Physiol 540(Pt 2):447-55. [PubMed: 11956335]  [MGI Ref ID J:105943]

Oleskevich S; Youssoufian M; Walmsley B. 2004. Presynaptic plasticity at two giant auditory synapses in normal and deaf mice. J Physiol 560(Pt 3):709-19. [PubMed: 15331689]  [MGI Ref ID J:105517]

Pujol R; Shnerson A; Lenoir M; Deol MS. 1983. Early degeneration of sensory and ganglion cells in the inner ear of mice with uncomplicated genetic deafness (dn): preliminary observations. Hear Res 12(1):57-63. [PubMed: 6662828]  [MGI Ref ID J:32691]

Steel KP; Bock GR. 1984. Electrically-evoked responses in animals with progressive spiral ganglion degeneration. Hear Res 15(1):59-67. [PubMed: 6541219]  [MGI Ref ID J:28899]

Steel KP; Bock GR. 1980. The nature of inherited deafness in deafness mice. Nature 288(5787):159-61. [PubMed: 7432512]  [MGI Ref ID J:6409]

Webster DB. 1992. Degeneration followed by partial regeneration of the organ of Corti in deafness (dn/dn) mice. Exp Neurol 115(1):27-31. [PubMed: 1728569]  [MGI Ref ID J:1600]

Youssoufian M; Oleskevich S; Walmsley B. 2005. Development of a robust central auditory synapse in congenital deafness. J Neurophysiol 94(5):3168-80. [PubMed: 16000524]  [MGI Ref ID J:116868]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   000656 CBA/J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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