Phenotypes Associated with This Genotype

Genotype
MGI:3722277

• Allelic Composition: Tg(YAC72)2511Hay/?
• Genetic Background: involves: FVB/N

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

nervous system

abnormal striatum morphology ( J:55405 )

• nuclear translocation of the N-terminal portion of HD is observed in striatal neurons of 12 month old mice with an immunoreactive antibody (EM48)

neuron degeneration ( J:55405 )

• selective degeneration is observed in the striatum at 12 months of age

• neurons are shrunken and hyperchromatic

abnormal excitatory postsynaptic potential ( J:55405 )

• hippocampal slices from 6 month old mice display a hyperexcitability exhibited as a broad EPSP at the distal dendrites

enhanced NMDA-mediated synaptic currents ( J:55405 )

• fast synaptic response in these mice has a prominent NMDA component

abnormal long-term potentiation ( J:55405 )

• following tetanization most slices from 6 month old mice exhibit a greater short-term potentiation when compared to controls

reduced long-term potentiation ( J:55405 )

• by 10 months of age, LTP is not induced in CA1 neurons; high frequency stimulation induces depression instead of potentiation

behavior/neurological

hyperactivity ( J:55405 )

• progressive hyperactivity is observed in the dark phase of open field testing beginning at 7 months of age

unidirectional circling ( J:55405 )

• circling was observed in one mouse at 8.5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:55405