These Atp2b2 (or Pmca2) knockout mice exhibit deafness, a decreased growth rate, an unsteady gait, an increased number of Purkinje neurons in the cerebellum, decreased thickness of the molecular layer, an absence of otoconia in the vestibular system, and abnormalities of the organ of Corti. These mice may be useful for studying the development of the vestibular and auditory systems, and the maintenance of otoconia.
Gary E Shull, University of Cincinnati
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Atp2b2 | ATPase, Ca++ transporting, plasma membrane 2 |
Homozygotes: A targeting vector was designed to insert a neomycin resistance (neo) cassette into exon 19 of the ATPase, Ca++ transporting, plasma membrane 2 (Atp2b2 or Pmca2) gene, abolishing gene function. Homozygous mice are viable with females being fertile. The expression of Pmca2 is tightly restricted to Purkinje neurons of the cerebellum, spiral ganglion nerves of the inner ear, and outer hair cells of the cochlea, and is required for both balance and hearing. Pmca2-/- mice have a decreased growth rate, an unsteady gait, difficulty in maintaining balance, and are deaf. They also exhibit an increased number of Purkinje neurons in the cerebellum, decreased thickness of the molecular layer, an absence of otoconia in the vestibular system, and abnormalities of the organ of Corti. These mice may be useful for studying the development of the vestibular and auditory systems, and the maintenance of otoconia.
Heterozygote: Heterozygous mice are viable, fertile, and normal in size. They exhibit normal growth, and are phenotypically similar to wildtype mice with the exception of some hearing loss.
A targeting vector was designed to insert a neomycin resistance (neo) cassette into exon 19 of the ATPase, Ca++ transporting, plasma membrane 2 (Atp2b2 or Pmca2) gene. The construct was electroporated into 129-derived embryonic stem (ES) cells and correctly targeted ES cells were injected into blastocysts. The resulting chimeric mice were bred to Black Swiss mice. This strain was maintained on a 129/Black Swiss background. Upon arrival at The Jackson Laboratory, mice were bred to 129S1/SvImJ inbred mice for at least one generation to establish the colony.
Allele Name | targeted mutation 1, Gary E Shull |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Pmca2 - |
Gene Symbol and Name | Atp2b2, ATPase, Ca++ transporting, plasma membrane 2 |
Gene Synonym(s) | |
Strain of Origin | Not Specified |
Chromosome | 6 |
Molecular Note | A neomycin selection cassette was inserted into exon 19, which encodes transmembrane domains essential for transport activity. Northern blot analysis demonstrated that no detectable transcript was produced from this allele in brain of homozygous mice. |
Mutations Made By | Gary Shull, University of Cincinnati |
When maintaining a live colony heterozygous mice may be bred to wildtype mice from the colony. The Donating Investigator confirms that homozygous females are fertile and homozygous male fertility is unknown. Homozygous mice exhibit extreme ataxia and loss of balance.
When using the Pmca2 - mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #34261 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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