These Atp13a2 targeted mutation mice develop late-onset impaired motor function and behavior, as well as lipofuscinosis. This strain may be useful in studies related to synucleinopathies such as Parkinson's disease, and lysosomal storage disorders.
Patrick J. Schultheis, Northern Kentucky University
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Atp13a2 | ATPase type 13A2 |
ATPase type 13A2 belongs to a family of ATPases that transport inorganic cations and other substrates across cell membranes. Certain mutations in the human ATP13A2 gene cause Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis. These mice carry a targeted mutation of the Atp13a2 gene in which exons 12 through 15 and a portion of exon 16 are disrupted by a NEO cassette. Homozygotes are viable and fertile. A truncated transcript is detected by Northern blot and RT-PCR analysis of brain tissue. Western blot analysis did not detect a resultant mutant protein, indicating it is unstable. Homozygotes develop an unsteady gait and reduced spontaneous activity (hindlimb stepping) at 20 months of age. Male homozygotes, between 20 to 29 months of age, display ataxia (uneven stride length). The increased accumulation of intraneuronal storage material (lipofuscin) observed in homozygotes 18-20 months of age was most evident in the hippocampus, where an approximate 3 fold increase in triton-soluble alpha-synuclein is also found. Lipofuscinosis is also found in the cerebellum and cortex. During backcrossing, the Y chromosome may not have been fixed to the C57BL/6NTac genetic background.
A targeting vector designed by Dr. Patrick J. Schultheis (Northern Kentucky University) containing a NEO cassette and polyA sequence was used to disrupt exons 12 through 15 and a portion of exon 16. The construct was electroporated into 129S6/SvEvTac derived CMT1-1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric animals were crossed to Black Swiss mice, and then backcrossed to C57BL/6NTac for 8 generations. During backcrossing, the Y chromosome may not have been fixed to the C57BL/6NTac genetic background. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6NJ (Stock No. 005304) at least once to establish the colony.
Allele Name | targeted mutation 1, Patrick Schultheis |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Atp13a2, ATPase type 13A2 |
Gene Synonym(s) | |
Strain of Origin | 129S6/SvEvTac |
Chromosome | 4 |
Molecular Note | A targeting vector contains a NEO cassette and polyA sequence that disrupt exons 12 through 15 and a portion of exon 16. Western blot analysis confirmed the absence of protein expression in the brain. |
When maintaining a live colony, these mice can be bred as homozygotes.
When using the B6N.129S6(Cg)-Atp13a2tm1Pjsch/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #021914 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Atp13a2<tm1Pjsch> |
Frozen Mouse Embryo | B6N.129S6(Cg)-Atp13a2<tm1Pjsch>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6N.129S6(Cg)-Atp13a2<tm1Pjsch>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6N.129S6(Cg)-Atp13a2<tm1Pjsch>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6N.129S6(Cg)-Atp13a2<tm1Pjsch>/J Frozen Embryo | $3373.50 |
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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. 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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