Allele/Variant

Gt(ROSA)26Sortm1.1(CAG-ATP1A3*D591V,-EGFP)Bcgen

Species
Mus musculus
Symbol
Gt(ROSA)26Sortm1.1(CAG-ATP1A3*D591V,-EGFP)Bcgen
Category
allele
Allele of gene
Gt(ROSA)26Sor
Transgenic Constructs
None
Synonyms
  • ATP1A3D591V
Description
The targeting vector inserted a CAG promoter, loxP site, FRT-flanked neo-STOP cassette, Tet-responsive element 3G (tetO), loxP site, ATP1A3 cDNA containing an aspartate to valine substitution at amino acid 591 (p.D591V; c.1772A>T), IRES, EGFP, WPRE, and polyA into the locus. The floxed neo-STOP and tetO were removed via cre-mediated recombination resulting in expression of the mutant protein and EGFP. The p.D591V missense mutation is a novel variant identified in a family with cone-rod dystrophy.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
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