Abstract:
:Huntington's disease (HD) is an incurable neuropsychiatric disease associated with CAG repeat expansion within a widely expressed gene that causes selective neuronal death. To understand its normal function, we have created a targeted disruption in exon 5 of Hdh (Hdhex5), the murine homolog of the HD gene. Homozygotes die before embryonic day 8.5, initiate gastrulation, but do not proceed to the formation of somites or to organogenesis. Mice heterozygous for the Hdhex5 mutation display increased motor activity and cognitive deficits. Neuropathological assessment of two heterozygous mice shows significant neuronal loss in the subthalamic nucleus. These studies show that the HD gene is essential for postimplantation development and that it may play an important role in normal functioning of the basal ganglia.
journal_name
Celljournal_title
Cellauthors
Nasir J,Floresco SB,O'Kusky JR,Diewert VM,Richman JM,Zeisler J,Borowski A,Marth JD,Phillips AG,Hayden MRdoi
10.1016/0092-8674(95)90542-1subject
Has Abstractpub_date
1995-06-02 00:00:00pages
811-23issue
5eissn
0092-8674issn
1097-4172pii
0092-8674(95)90542-1journal_volume
81pub_type
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