Gene expression changes in the cerebellum, cortex and spinal cord of MATR3 S85C knock-in mice at pre-symptomatic stage 8-10 weeks of age

ABSTRACT: Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by motor neuron degeneration. MATR3 is an ALS-linked gene that encodes an RNA-binding protein that is involved in alternative splicing regulation. S85C is the most commonly identified mutation in MATR3. We generated MATR3 S85C knock-in mice (of the C57BL/6 background) as a model to study ALS pathogenesis and we found that homozygous S85C mice begin to show phenotypes at around 10 weeks of age. To investigate the molecular changes that may contribute to the behavioural deficits and neurodegeneration observed in homozygous S85C mice, we performed RNA-seq on cortex, cerebellum and lumbar spinal cord tissue of wild-type, heterozygous and homozygous S85C mice (4 females per genotype) at the early sympt

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Mus musculus

SUBMITTER: Cadia Chan 

PROVIDER: E-MTAB-8838 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress