Gt(ROSA)26Sor^{tm1.1(CAG-ATP1A3*D591V,-EGFP)Bcgen}
Targeted Allele Detail

Summary

• Symbol: Gt(ROSA)26Sor^{tm1.1(CAG-ATP1A3*D591V,-EGFP)Bcgen}
• Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 1.1, Biocytogen LLC
• MGI ID: MGI:7449316
• Synonyms: ATP1A3^D591V
• Gene: Gt(ROSA)26Sor Location: Chr6:113044389-113054205 bp, - strand Genetic Position: Chr6, 52.73 cM
• Alliance: Gt(ROSA)26Sor^{tm1.1(CAG-ATP1A3*D591V,-EGFP)Bcgen} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:319361
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Inserted expressed sequence, Reporter)
• Mutation: Insertion
• Mutation details: 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. (J:319361)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gt(ROSA)26Sor Mutation: 1046 strains or lines available

References

• Original: J:319361 Zhou GH, et al., ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy. Hum Genet. 2020 Nov;139(11):1391-1401
• All: 1 reference(s)