Phenotypes Associated with This Genotype

Genotype
MGI:5569533

• Allelic Composition: Tg(CMV-HTT*48Q)BTag/0
• Genetic Background: involves: FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

increased grooming behavior ( J:50173 )

• begins at 20 weeks of age

akinesia ( J:50173 )

• decrease in activity progresses to akinesia

decreased locomotor activity ( J:50173 )

• mice become less alert and less exploratory at about 24 weeks of age, regardless of whether they previously showed hyperactivity

• decrease in activity lasts 4-6 weeks and progresses to locomotor deterioration and akinesia

hyperactivity ( J:50173 )

• begins at 20 weeks of age

unidirectional circling ( J:50173 )

• begins at 20 weeks of age

increased stereotypic behavior ( J:50173 )

• 10 of 20 mice show stereotypy, consisting of generalized hyperactive behavior, including unidirectional rotations, backflips, and excessive grooming, at 20 weeks of age

abnormal sensory capabilities/reflexes/nociception ( J:50173 )

• lack of response to sensory stimuli precedes death

limb grasping ( J:50173 )

• mice exhibit feet clasping following suspension by their tails at 8 weeks of age and from then on throughout life

growth/size/body

slow postnatal weight gain ( J:50173 )

• mice do not gain weight when they become hyperactive

nervous system

gliosis ( J:50173 )

• focal gliosis in the hippocampus, thalamus, and cerebral cortex

astrocytosis ( J:50173 )

• fibrillary astrocytosis, which is most evident in hypokinetic and akinetic mice

• astocytosis is most prominent in the striata

neuron degeneration ( J:50173 )

• neuronal loss, which is most evident in hypokinetic and akinetic mice

• neuronal loss is most prominent in the striata, but is also seen in the hippocampus, thalamus, and cerebral cortex

• however, no evidence of degeneration of Purkinje or granule cells

neuronal intranuclear inclusions ( J:50173 )

• neuronal intranuclear inclusions are seen in neurons of the striatum, cerebral cortex, hippocampus, thalamus, and cerebellum, and some Purkinje cells; less than 1% of neurons from the striatum show intranuclear inclusions

renal/urinary system

urinary incontinence ( J:50173 )

• urinary incontinence is frequently seen at 24 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:50173