Mouse Models DRPLA AT-FL-65Q Model type Transgenic Mouse strain C3H/B6 Causal gene(s) ATN1 Mutation 65Q RRID RRID: MMRRC_000398-MU Originating lab Johns Hopkins University School of Medicine View details →
Mouse Models DRPLA AT-FL-65Q;GFP-LC3 Model type Transgenic Causal gene(s) ATN1 Mutation 65Q with GFP-LC3 Originating lab King's College London View details →
Mouse Models DRPLA At65QmNES mice Model type Transgenic Mouse strain C3H/B6 Causal gene(s) ATN1 Mutation 65Q with alteration of nuclear export signal Originating lab Johns Hopkins University School of Medicine View details →
Mouse Models DRPLA At65QmNLS mice Model type Transgenic Mouse strain C3H/B6 Causal gene(s) ATN1 Mutation 65Q with alteration of nuclear localization signal Originating lab Johns Hopkins University School of Medicine View details →
Mouse Models AOA1 AtmR35X/+; Aptx-/- mice Model type Knockout Mouse strain C57Bl/6 and 129 x C57Bl/6J Causal gene(s) APTX Mutation Aptx homozygous knockout with heterozygous R35X mutation in Atm gene (causing ataxia telangiectasia) mice Originating lab Harbor UCLA medical Center View details →
Mouse Models AOA1 AtmR35X/R35X; Aptx-/- mice Model type Knockout Mouse strain C57Bl/6 and 129 x C57Bl/6J Causal gene(s) APTX Mutation Aptx homozygous knockout with homozygous R35X mutation in Atm gene (causing ataxia telangiectasia) mice Originating lab Harbor UCLA medical Center View details →
Mouse Models AOA1 AtmR35X/R35X; Aptx-/+ mice Model type Heterozygous KO Mouse strain C57Bl/6 and 129 x C57Bl/6J Causal gene(s) APTX Mutation Aptx heterozygous knockout with homozygous R35X mutation in Atm gene (causing ataxia telangiectasia) mice Originating lab Harbor UCLA medical Center View details →
Mouse Models DRPLA Atro-118Q transgenic mice Model type Transgenic Mouse strain C57BL/6J and SJL/J Causal gene(s) ATN1 Mutation 118Q Originating lab Morgan-Tan International Center for Life Sciences View details →
Cell Lines SCA2 Ax-1 Cell type hiPSC Causal gene(s) ATXN2 Mutation 23/36 CAG Originating lab University of Tübingen View details →
Cell Lines SCA2 Ax-2 Cell type hiPSC Causal gene(s) ATXN2 Mutation 22/42 CAG Originating lab University of Tübingen View details →
Cell Lines SCA3 AX-25 Cell type hiPSC Causal gene(s) ATXN3 Mutation 70 CAG Originating lab University of Tübingen View details →
Cell Lines SCA3 AX-26 Cell type hiPSC Causal gene(s) ATXN3 Mutation 73 CAG Originating lab University of Tübingen View details →
Cell Lines SCA3 AX-27 Cell type hiPSC Causal gene(s) ATXN3 Mutation 76 CAG Originating lab University of Tübingen View details →
Cell Lines SCA2 Ax-3 Cell type hiPSC Causal gene(s) ATXN2 Mutation 22/38 CAG Originating lab University of Tübingen View details →
Cell Lines SCA3 AX1 Cell type hiPSC Causal gene(s) ATXN3 Mutation 23/70 CAG Originating lab University of Tübingen View details →
Cell Lines SCA3 AX2 Cell type hiPSC Causal gene(s) ATXN3 Mutation 26/77 CAG Originating lab University of Tübingen View details →
Cell Lines SCA3 AX3 Cell type hiPSC Causal gene(s) ATXN3 Mutation 24/73 CAG Originating lab University of Tübingen View details →
Cell Lines SACS/ARSACS/SPAX6 BOR-090711-003 Cell type Fibroblast Causal gene(s) SACS Mutation Protein change: p.L1180Lfs*7 (nonsense compound heterozygous variant) Originating lab University of Bordeaux View details →
Cell Lines MSA/OPCA C1 (MSA-C) Cell type hiPSC Causal gene(s) ? Originating lab University of Milan View details →
Cell Lines SCA3 C111 Cell type hiPSC Causal gene(s) ATXN3 Mutation 13 CAG Originating lab Chinese Academy of Sciences View details →
