Strain Name:

STOCK Otofdeaf5Jcs/Kjn

Stock Number:

006128

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Availability:

Cryopreserved - Ready for recovery

Other products are available, see Purchasing Information for Cryopreserved Embryos

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 Chemically Induced Mutation; Mutant Stock; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse

Development
The deaf5Jcs mutation was generated by ENU mutagenesis of C57BL/6J males, which were then bred with C3HeB/FeJ-Rw/+ females to permit tracking of the mutated male-derived Chromosome 5. The male G1 offspring of this cross were then bred with Rw +/+ Hm females and the non-Hm-bearing Rw/+ offspring, which would carry the Chromosome 5 that was potentially mutagenized in the Rw deletion region, were selected and intercrossed to reveal any recessive mutations. Clickbox screening revealed the deaf5Jcs mutation. A homozygous deaf5Jcs male, on this mixed background of predominantly C57BL/6J and C3HeB/FeJ, was bred to a BALB/cJ female and the resulting offspring were intercrossed. A homozygous male from this STOCK background was sent from Dr. John Schimenti at Cornell University to Dr. Kenneth Johnson at The Jackson Laboratory, and in vitro fertilization was carried out with C3HeB/FeJ females. The line was then sibling inbred and reached generation F5 in 2007.

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls

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 Recessive 9; DFNB9
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Otofdeaf5Jcs/Otof+

        STOCK Otofdeaf5Jcs/Kjn
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • heterozygotes display normal ABR thresholds   (MGI Ref ID J:125960)

Otofdeaf5Jcs/Otofdeaf5Jcs

        STOCK Otofdeaf5Jcs/Kjn
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • vestibular-evoked potential is normal and movement, righting responses, and swim tests are normal indicating normal vestibular function   (MGI Ref ID J:125960)
    • deafness   (MGI Ref ID J:100332)
    • increased or absent threshold for auditory brainstem response
      • ABR could not be detected in homozygotes at 4 weeks of age   (MGI Ref ID J:125960)
  • behavior/neurological phenotype
  • absent pinna reflex   (MGI Ref ID J:125960)

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Otofdeaf5Jcs
Allele Name deaf 5, John C Schimenti
Allele Type Chemically induced (ENU)
Strain of OriginC57BL/6J
Gene Symbol and Name Otof, otoferlin
Chromosome 5
Gene Common Name(s) AUNB1; DFNB6; DFNB9; FER1L2; NSRD9;
Molecular Note A T to A base substitution in exon 10 yields an isoleucine to asparagine change in a highly conserved residue of the C2B protein domain and immunohistochemistry of the cochlea fails to detect this protein. [MGI Ref ID J:125960]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Longo-Guess C; Gagnon LH; Bergstrom DE; Johnson KR. 2007. A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9 Hear Res 234(1-2):21-8. [PubMed: 17967520]  [MGI Ref ID J:125960]

Wilson L; Ching YH; Farias M; Hartford SA; Howell G; Shao H; Bucan M; Schimenti JC. 2005. Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. Genome Res 15(8):1095-105. [PubMed: 16024820]  [MGI Ref ID J:100332]

Additional References

Otofdeaf5Jcs related

Ching YH; Munroe RJ; Moran JL; Barker AK; Mauceli E; Fennell T; Dipalma F; Lindblad-Toh K; Abcunas LM; Gilmour JF; Harris TP; Kloet SL; Luo Y; McElwee JL; Mu W; Park HK; Rogal DL; Schimenti KJ; Shen L; Shindo M; Shou JY; Stenson EK; Stover PJ; Schimenti JC. 2010. High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5. BMC Genet 11:106. [PubMed: 21118569]  [MGI Ref ID J:169914]

Heidrych P; Zimmermann U; Kuhn S; Franz C; Engel J; Duncker SV; Hirt B; Pusch CM; Ruth P; Pfister M; Marcotti W; Blin N; Knipper M. 2009. Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. Hum Mol Genet 18(15):2779-90. [PubMed: 19417007]  [MGI Ref ID J:150214]

Noh J; Seal RP; Garver JA; Edwards RH; Kandler K. 2010. Glutamate co-release at GABA/glycinergic synapses is crucial for the refinement of an inhibitory map. Nat Neurosci 13(2):232-8. [PubMed: 20081852]  [MGI Ref ID J:156675]

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* $2525.00
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.

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

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

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • 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* $3283.00
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.

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

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

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • 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.

Control Information

  Control
   Heterozygote from the colony
 
  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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