These Myo3aKI/KI mice contain the nonsense mutation TAT>TAG at codon 1041 of the myosin IIIA gene. This mutation introduces a premature stop codon in exon 28, analogous to a Myo3a mutation found in humans with adult on-set hearing loss (DFNB30). These mice may be useful for studying adult on-set human hearing loss DFNB30.
Mary-Claire King, Univ of Washington
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Humanized sequence) | Myo3a | myosin IIIA |
These Myo3aKI/KI mice contain the nonsense mutation TAT>TAG at codon 1041 of the myosin IIIA (Myo3a) gene. This mutation introduces a premature stop codon in exon 28, analogous to a Myo3a mutation found in humans with adult on-set hearing loss (DFNB30). Homozygotes are viable, fertile, and normal in size. DFNB30 is an inherited progressive hearing loss first identified in a Middle Eastern family, Family N. Myo3a is normally expressed in the vestibular hair cells of the inner ear. These mice exhibit significant hearing loss during the third month of life, beginning at high frequencies and eventually progressing to all frequencies. The inner and outer hair cells of these mice exhibit degeneration by 10 and 17 months of age, respectively, showing greater loss towards the base of the cochlea. These mice may be useful for studying adult on-set human hearing loss DFNB30.
A targeting construct was designed to insert the nonsense mutation TAT>TAG at codon 1041 of the myosin IIIA (Myo3a) gene. This mutation, corresponding to human codon 1042, results in a stop codon in exon 28 commonly found in humans with adult on-set hearing loss DFNB30. Also, an ACN cassette was placed upstream of exon 28. The ACN cassette, containing the neomycin resistance gene and Cre recombinase gene under the control of angiotensin-converting enzyme promoter, is flanked by loxP sites. Cre-mediated recombination during spermatogenesis removed the cassette leaving one loxP site. This construct was electroporated into C57BL/6-derived embryonic stem (ES) cells and correctly targeted ES cells were injected into BALB/c blastocysts. The resulting chimeric mice were bred to C57BL/6 mice to produce Myo3aKI/KI mice. Cryopreserved embryos were sent to The Jackson Laboratory Repository. Upon arrival, mutant mice were bred together (or to C57BL/6J (Stock No. 000664) mice for at least one generation) to establish the colony.
Allele Name | targeted mutation 1.1, Mary-Claire King |
---|---|
Allele Type | Targeted (Humanized sequence) |
Allele Synonym(s) | Myo3aKI |
Gene Symbol and Name | Myo3a, myosin IIIA |
Gene Synonym(s) | |
Promoter | Myo3a, myosin IIIA, mouse, laboratory |
Strain of Origin | C57BL/6 |
Chromosome | 2 |
Molecular Note | A targeting construct was designed to insert the nonsense mutation TAT>TAG at codon 1041 of the myosin IIIA (Myo3a) gene. This mutation, corresponding to human codon 1042, results in a stop codon in exon 28 commonly found in humans with adult on-set hearing loss DFNB30. Also, an ACN cassette was placed upstream of exon 28. The ACN cassette, containing the neomycin resistance gene and Cre recombinase gene under the control of angiotensin-converting enzyme promoter, is flanked by loxP sites. Cre-mediated recombination during spermatogenesis removed the cassette leaving one loxP site. |
When maintaining a live colony, homozygous mice may be bred together.
When using the C57BL/6-Myo3atm1.1Mckg/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #014165 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Myo3a<tm1.1Mckg> |
Frozen Mouse Embryo | C57BL/6-Myo3a<tm1.1Mckg>/J | $2595.00 |
Frozen Mouse Embryo | C57BL/6-Myo3a<tm1.1Mckg>/J | $2595.00 |
Frozen Mouse Embryo | C57BL/6-Myo3a<tm1.1Mckg>/J | $3373.50 |
Frozen Mouse Embryo | C57BL/6-Myo3a<tm1.1Mckg>/J | $3373.50 |
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.