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. 2012 Sep 7;46(2):393–429. doi: 10.1007/s12035-012-8315-4

Table 6.

The non-CNS phenotypes in poly Q diseases mouse models cover a vast majority of tissues

Tissue/organ Phenotype Mouse models References
Adipose tissue Adipose tissue dysfunction BACHD,CAG140, N171-82Q-81, R6/2 [67, 294, 302, 337, 368]
PolyQ protein aggregates R6/2 [34]
Adrenal gland Hormonal dysregulation R6/2 [67]
Organ pathology R6/2 [67]
PolyQ protein aggregates Hdh(CAG)150, R6/2 [34, 349]
Bones Organ pathology R6/2 [67]
Gastrointestinal tract Hormonal dysregulation R6/2 [258]
Organ pathology PrP-SCA7-c92Q, R6/2 [183, 258]
PolyQ protein aggregates Hdh(CAG)150, R6/2 [34, 349]
Heart Muscle abnormalities R6/2 [349]
Organ pathology BACHD, R6/2, YAC128 [68, 87, 351]
polyQ protein aggregates AR-97Q, R6/2 [68, 212]
Immune system Increased level of cytokines Hdh(CAG)150, R6/2, YAC128 [269]
Inner ear PolyQ protein aggregates Hdh(CAG)150, R6/2 [319]
Kidneys Organ pathology Hdh(CAG)150, R6/2, YAC128 [34, 87, 349]
PolyQ protein aggregates Hdh(CAG)150, R6/2 [34, 349]
Liver Metabolism alteration R6/2 [308]
Organ pathology R6/2, YAC128 [87, 298]
PolyQ protein aggregates AR100, Hdh(CAG)150, R6/2 [34, 204, 349]
Lung Organ pathology AR239Q [203]
Pancreas Hormonal dysregulation R6/2 [67, 272]
Organ pathology N171-82Q-81, R6/1, R6/2 [65, 307, 325]
PolyQ protein aggregates AR-97Q, AR239Q, Hdh(CAG)150,N171-82Q-81, R6/1, R6/2 [34, 203, 212, 307, 325, 349]
Diabetes mellitus BACHD, Hdh(CAG)150, N171-82Q-81, R6/1, R6/2 [77, 272, 302, 307, 357]
Peripheral nervous system Neuronal morphology alterations PrP-SCA7-c92Q, R6/2 [183, 364]
Neuronal loss PrP-SCA7-c92Q [183]
PolyQ protein aggregates PrP-SCA7-c92Q [183]
Abnormal myelination MJD84.2 [164]
Skeletal muscle Muscle abnormalities AR-97Q, AR100, AR113Q, AR120, Hdh(CAG)150, HSA-AR-141, NLS-N171-82Q, R6/1, R6/2 [34, 204, 209, 211, 212, 217, 281, 298, 345, 346, 349]
PolyQ protein aggregates AR-97Q, AR100, AR113Q, Hdh(CAG)150, HSA-AR-141, R6/2 [34, 204, 208, 212, 217, 349]
Skin PolyQ protein aggregates AR239Q [203]
Spleen Organ pathology YAC128 [87]
Testes Fertility AR120, Q71-B, R6/2 [157, 211, 335]