These knock-in mice carry a hyperexpanded (14-copy) polyglutamine (CAG) repeat in the targeted Cacna1a (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit) gene. Homozygous Sca614Q/14Q and heterozygous Sca614Q/+ mice are indistinguishable from wild-type littermates, even after 20 months of age.
Huda Zoghbi, Baylor College of Medicine
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Humanized sequence) | Cacna1a | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
These knock-in mice carry a hyperexpanded (14-copy) polyglutamine (CAG) repeat in the targeted Cacna1a (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit) gene. Homozygous Sca614Q/14Q and heterozygous Sca614Q/+ mice are indistinguishable from wild-type littermates, even after 20 months of age.
A segment of mouse exon 47 was replaced by the homologous human genomic segment containing 14 copies of a CAG repeat. A neomycin resistance cassette and thymidine kinase gene flanked by a pair of loxP sites were inserted into exon 45 of the mouse gene. The targeting vector was introduced to AB2.2 129S7/SvEvBrd-Hprt1+-derived embryonic stem (ES) cells and subsequent electroporation of Cre-recombinase plasmids into positive clones excised the floxed segment. This line was backcrossed 12 times to C57BL/6 by the donating laboratory.
Allele Name | targeted mutation 1, Huda Y Zoghbi |
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Allele Type | Targeted (Humanized sequence) |
Allele Synonym(s) | Cacna1ahEx47; Sca614Q |
Gene Symbol and Name | Cacna1a, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
Gene Synonym(s) | |
Promoter | Cacna1a, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, mouse, laboratory |
Strain of Origin | 129S7/SvEvBrd-Hprtb-m2 |
Chromosome | 8 |
Molecular Note | A floxed neo cassette was inserted upstream of exon 46 and exon 47 was replaced with its human equivalent. During the process the number of CAG repeats was modified to 14, and transient cre expression was used to remove the floxed neo cassette. |
Mutations Made By | Huda Zoghbi, Baylor College of Medicine |
When using the B6.129S7-Cacna1atm1Hzo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008816 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wild-type for Cacna1a<tm1Hzo> |
Frozen Mouse Embryo | B6.129S7-Cacna1a<tm1Hzo>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S7-Cacna1a<tm1Hzo>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S7-Cacna1a<tm1Hzo>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129S7-Cacna1a<tm1Hzo>/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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