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| Status |
Public on Mar 19, 2024 |
| Title |
Transcriptome analysis of Katnal2 knock-out mutant and wild-type mice |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Autism spectrum disorders (ASD) frequently accompany macrocephaly, which could involve hydrocephalic enlargement of brain ventricles. Katnal2 is a microtubule-related protein strongly implicated in ASD. However, it remains unclear whether Katnal2 knockout (KO) in mice leads to microtubule-related cellular deficits and ASD-related phenotypes. We found here that Katnal2-KO mice display social communication deficits, including excessive courtship ultrasonic vocalizations and decreased mating success. Katnal2-KO brains show age-dependent ventricular enlargements and motile ciliary deficits in ependymal cells lining ventricular walls. Katnal2-KO hippocampal neurons, surrounded by lateral ventricles, show limited blood volumes and flow and age-dependent synaptic functional deficits involving synaptic gene downregulation and ASD-like transcriptomic changes. Early postnatal Katnal2 re-expression prevents the ventricular and behavioral phenotypes in Katnal2-KO adults. These results suggest that Katnal2 critically regulates ependymal ciliary function, ventricular volume, CSF circulation, synaptic function, and social communication and that ependymal ciliopathies could underlie ASD-related macrocephaly, ventriculomegaly, and hydrocephalus
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| Overall design |
Whole brain transcriptome analysis of Katnal2 knock-out mutant and wild-type mice age of 3 and 10 weeks
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| Web link |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11104772/
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| |
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| Contributor(s) |
Kim E, Kang R, Kim K, Kang H |
| Citation(s) |
38718086 |
| |
| Submission date |
Dec 02, 2022 |
| Last update date |
Jun 19, 2024 |
| Contact name |
Eunjoon Kim |
| E-mail(s) |
[email protected]
|
| Phone |
82-42-350-2633
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| Organization name |
IBS/KAIST
|
| Department |
Center for Synaptic Brain Dysfunctions/Department of Biological Sciences
|
| Street address |
Kuseong-dong
|
| City |
Daejeon |
| ZIP/Postal code |
305-701 |
| Country |
South Korea |
| |
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| Platforms (1) |
| GPL21103 |
Illumina HiSeq 4000 (Mus musculus) |
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| Samples (20)
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| Relations |
| BioProject |
PRJNA907769 |
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