Characterization of a Knock-In Mouse Model with a Huntingtin Exon 1 Deletion.

ABSTRACT:

Background

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.

Objective

This study longitudinally characterizes the in vivo consequences of deleting the murine Htt N-terminal domains encoded by Htt exon 1.

Methods

Knock-in mice with a deletion of Htt exon 1 sequences (HttΔE1) were generated and bred into the C57BL/6J congenic genetic background. Their behavior, DNA damage response, basal autophagy, and glutamatergic synapse numbers were evaluated.

Results

Progeny from HttΔE1/+

SUBMITTER: Braatz EM 

PROVIDER: S-EPMC8595774 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature