Abstract Details

Title Expression Pattern of C9ORF72 Ortholog in Mice

Topic Anterior Horn

Presentation(s) S06 - (-)

Poster/Presentation
Number 004

Objective

Background Recently, a noncoding hexanucleotide repeat in C9ORF72 was identified as the cause of chromosome 9p-associated ALS and FTD. The C9ORF72 repeat expansion is a relatively common cause of ALS and FTD in Western population. Repeat expansion results in reduced expression of the major transcripts of C9ORF72, suggesting that haploinsufficiency may play a role in disease.

Design/Methods We used gene targeting to disrupt the expression of the C9ORF72 ortholog in mice using LacZ knock-in strategy.

Results We found high expression of C9ORF72 mouse ortholog in hippocampus, thalamus, brainstem and cerebral cortex. This gene is also transcribed in spinal cord, especially in the ventral horn. We didn't detect expression in skeletal muscle.

Conclusions Our mice will be a useful tool to examine the expression pattern of C9ORF72, until antibodies have been identified that can reliably recognize C9ORF72. Also, we will describe preliminary results for phenotypes of C9ORF72 heterozygous and homozygous knockout animals.

Authors/Disclosures
PRESENTER	No disclosure on file
Joyce A. Cramer (Yale University School of Medicine)	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
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