. 2020 Mar 23;9:e54285. doi: 10.7554/eLife.54285

Table 1. Features of mouse models used in this study.

Characteristics of DYT1 dystonia mouse models including extent of Cre field, behavioral phenotype, and neuropathological phenotype.

Model	Genotype	Cre field	Organismal/behavioral phenotype	Histologic findings	Rationale for use	Impact of torsinB modulation
Emx1(A)-CKO	Emx1-Cre; Tor1a^KO/flx	Forebrain excitatory, prominent in cortex and hippocampus	Normal appearing Limb clasping in a subset of mice	Forebrain-selective neurodegeneration	Forebrain motor loop involvement Mild behavioral and neuropathology findings to assess combined torsinA and B LOF	Reduction: Worsened neuropathology and behavior
Emx1-SKI	Emx1-Cre; Tor1a^ΔE/flx	Forebrain excitatory, prominent in cortex and hippocampus	Normal appearing Limb clasping in a subset of mice	Forebrain-selective neurodegeneration milder than that seen in Emx1-CKO	Forebrain motor loop involvement Presence of disease mutant torsinA	Reduction: Dose-dependent worsening of neuropathology and behavior
Nes(A)-CKO	Nestin-Cre; Tor1a^KO/flx	Entire nervous system	Lack of postnatal weight gain Early lethality by 3rd postnatal week Overtly abnormal postures at rest	Degeneration in multiple sensorimotor regions	Clear and robust phenotypes Widespread involvement of nervous system	Overexpression: Prevention of lethality, restored weight gain Prevention of degeneration and gliosis
Nes-SKI	Nestin-Cre; Tor1a^ΔE/flx	Entire nervous system	Reduced postnatal weight gain Overt postural and developmental phenotypes at rest	Degeneration in multiple sensorimotor regions	Widespread involvement of nervous system Presence of disease mutant torsinA	Overexpression: Restored weight gain Prevention of degeneration and gliosis
Dlx(A)-CKO	Dlx5/6-Cre; Tor1a^KO/flx	Forebrain GABAergic and cholinergic, including all striatal neurons	Limb clasping and trunk twisting; symptoms respond to drugs used in human patients	Selective degeneration of dorsal striatal cholinergic interneurons	Predictive validity Time course of motor abnormalities mimics that of human patients	Overexpression: Prevention of abnormal limb clasping and twisting movements Prevention of cholinergic interneuron degeneration