Mice homozygous for this Coch (coagulation factor C homolog) null allele exhibit vestibular dysfunction, hearing loss at the highest frequencies by 21 months. This mutant mouse strain may be useful in studies of late onset hearing loss.
Cynthia Morton, Brigham & Women's Hosp. , Harvard Med
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Coch | cochlin |
Homozygotes: Mice that are homozygous for the targeted mutation are viable, fertile and normal in size. Mice exhibit vestibular dysfunction by 13 and 21 months of age as determined by elevated measurements of the vestibular evoked potential (VsEP). Auditory brainstem response (ABR) testing at 21 months of age indicates hearing loss at the highest frequencies as determined by elevated or absent ABR thresholds. Histopathology at 21 months of age reveals no hair cell loss or obvious change in morphology. This mutant mouse strain may be useful in studies of late onset hearing loss.
Heterozygote:
Heterozygous mice do not have hearing loss, but exhibit the same vestibular malfunction at 21 months of age as the homozygous mice.
A targeting vector was designed to insert a loxP site between exons 6 and 7 and an IRESlacZ cassette followed by a loxP-flanked PGKneo cassette into exon 12. The construct was electroporated into 129S1/Sv-Oca1+ Tyr+ Kitl+ -derived W9.5 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric animals were crossed to a mixed C57BL/6 and CD1 background. Offspring were crossed a unknown background expressing Cre under the control of a beta actin promoter to remove exons 7 through 11 (containing two VWA domains) as well as the neo and lacZ cassettes and part of exon 12. Mice were subsequently crossed to CBA/CaJ for 12 generations. Upon arrival, mice were bred to CBA/CaJ for at least 1 generation to establish the colony.
Allele Name | targeted mutation 1.1, Colin L Stewart |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Coch- |
Gene Symbol and Name | Coch, cochlin |
Gene Synonym(s) | |
Strain of Origin | 129S1/Sv-Oca2+ Tyr+ Kitl+ |
Chromosome | 12 |
Molecular Note | Exons 7-11 and part of exon 12, encoding the two vWA domains and remaining cochlin protein downstream of the LCCL domain, were removed via cre mediated recombination. Neither full length or truncated transcripts were detected in mutants. |
Mutations Made By | Cynthia Morton, Brigham & Women's Hosp. , Harvard Med |
While maintaining a live colony, these mice are bred as homozygotes.
When using the CBACa.129S1(Cg)-Cochtm1.1Stw/Mmjax mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #34310 in your Materials and Methods section.
Facility Barrier Level Descriptions
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.
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