Untethering the Nuclear Envelope and Cytoskeleton: Biologically Distinct Dystonias Arising from a Common Cellular Dysfunction

Table 1

Mouse models of dystonia.

Type/mutation	Anatomical phenotype	Motor phenotype	Reference
Dystonin/Bpag1 mutations*
dt^24J, spontaneous	Nervous system	Hind limb clasping, dystonia	[175]
dt^27J, spontaneous	Nervous system	Hind limb clasping, dystonia	[117]
dt^alb, spontaneous	Behavior, nervous system, muscle	Dystonia	[176]
dt^J, spontaneous	Mortality/aging, behavior, growth/size, pigmentation, vision/eye, hearing/vestibular/ear, integument	Abnormal posture, ataxia, impaired motor coordination	[177]
dt^Tg4, transgenic (random gene disruption)	Mortality/aging, behavior, nervous system, muscle	Impaired motor coordination, hind limb clasping	[132]
dt^tm1Efu, transgenic	Mortality/aging, nervous system, muscle, behavior, homeostasis, limbs/digits/tail, integument	Dystonia	[178]
DYT1 mutations^†
NSE-hMT, transgenic	Perinuclear aggregates stained for torsinA and ubiquitin	Hind limb clasping, marked hyperactivity, circling	[21]
CMV-hMT, transgenic	Not reported	Limited improvement on repeated rotarod testing in old animal	[165]
Prion-hMT, transgenic	Perinuclear aggregates stained for torsinA and ubiquitin	Limited improvement on repeated rotarod testing in old animals	[164]
torsinA knock-in, heterozygous	Perinuclear aggregates stained for torsinA and ubiquitin, NE abnormalities in neurons	Mild hyperactivity, poor performance on beam walking test	[23]
torsinA knock-out, heterozygous	Peduced amount of torsinA; NE abnormalities in neurons	Similar to knock-in(heterozygous)	[96]
Cortex-specific torsinA knock-out, heterozygous	Not reported	Deficiency on beam-walking test, hyperactivity	[98]
TH- hMT, transgenic	Not reported	Similar to CMV-hMT, transgenic	[104]

NSE: neuron-specific enolase promoter; CMV: cytomegalovirus promoter; hMT: human torsinA mutant; hWT: human torsinA wild type; NE: nuclear envelope; TH: tyrosine hydroxylase.
*Based on information retrieved from the International Mouse Genome Database (MGI)
^†Adapted from Jinnah et al. [169].