Allele/Variant

Cacna1atm2.1Kewa

Species
Mus musculus
Symbol
Cacna1atm2.1Kewa
Category
allele
Allele of gene
Cacna1a
Transgenic Constructs
None
Synonyms
  • MPI-118Q
Description
A floxed neo cassette was inserted upstream of exon 46 and exon 47 was replaced with a modified human exon 47 containing 114 CAG repeats interrupted by 4 CAA units in multiple places. A splice site mutation was inserted flanking the repeat region preventing production of the MPc and MPII isoforms. Cre meditated recombination removed the floxed neo cassette. Quantitative RT-PCR detected similar levels of expression of transcript in the cerebellum of homozygous mutant and wild-type mice. Sequencing of cDNAs from cerebellar extracts confirmed the absence of the MPc and MPII isoforms in homozygous mice.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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