Open AccessCharacterization of a Knock-In Mouse Model with a Huntingtin Exon 1 Deletion
Author(s) -
Elise M. Braatz,
Emily A. André,
Jeh-Ping Liu,
Scott Zeitlin
Publication year - 2021
Publication title -
journal of huntington's disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.081
H-Index - 24
eISSN - 1879-6400
pISSN - 1879-6397
DOI - 10.3233/jhd-210494
Subject(s) - huntingtin , gene knockin , exon , genetics , biology , knockout mouse , gene , mutant
The Huntingtin (HTT) N-terminal domains encoded by Huntingtin's (HTT) exon 1 consist of an N17 domain, the polyglutamine (polyQ) stretch and a proline-rich region (PRR). These domains are conserved in mammals and have been hypothesized to modulate HTT's functions in the developing and adult CNS, including DNA damage repair and autophagy.