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Status |
Public on Jun 30, 2023 |
Title |
Functional identification of protocadherin alpha 9 (PCDHA9) as a candidate causative gene for amyotrophic lateral sclerosis |
Organism |
Mus musculus |
Experiment type |
Genome binding/occupancy profiling by high throughput sequencing Expression profiling by high throughput sequencing
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Summary |
Genes associated with amyotrophic lateral sclerosis (ALS) are identified in ~15% of sporadic cases. Pcdhα9 mouse mutants carrying the corresponding point mutation or deletion mutation manifested a progressive decline in survival and motor function (paralysis) caused by loss of spinal motor neurons, significant muscle atrophy, and structural/functional abnormalities of the neuromuscular junction. Potential causes of defects in mutant mice predicted by single nucleus RNA-seq and ATAC-seq.
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Overall design |
scRNA-seq; snATAC-seq
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Contributor(s) |
Zhang D, Zhong J, Wang C, Yao X |
Citation(s) |
38467605 |
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Submission date |
Jun 13, 2023 |
Last update date |
Mar 20, 2024 |
Contact name |
Dan Zhang |
E-mail(s) |
danzhang@genetics.ac.cn
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Organization name |
Institute of Genetics and Developmental Biology, Chinese Academy of Sciences
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Street address |
No. 1 West Beichen Road, Chaoyang District
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City |
Beijing |
ZIP/Postal code |
100101 |
Country |
China |
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Platforms (1) |
GPL24247 |
Illumina NovaSeq 6000 (Mus musculus) |
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Samples (4)
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Relations |
BioProject |
PRJNA983211 |