Omics · dataset · 2026
Data from: A novel mouse model for LAMA2-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype
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Our understanding of the molecular pathogenesis of LAMA2-related muscular dystrophy (LAMA2-MD) requires improvement.
Description
Here, we report the phenotype, neuropathology, and transcriptomics data (scRNA-seq and bulk RNA-seq) of a new Lama2 knockout mouse (dyH/dyH), which was created based on the human LAMA2-MD mutation hotspot region using CRISPR-Cas9. The dyH/dyH mice presented a severe phenotype with muscular dystrophy.
Mouse brain scRNA-seq showed that the Lama2 gene was expressed predominantly and specifically in vascular and leptomeningeal fibroblasts and vascular smooth muscle cells, and weakly in astrocytes in wild-type mice. Laminin α2 expression on the cortical surface was observed with immunofluorescence. In dyH/dyH, Lama2 expression was decreased in those cell types, which might be associated with the disruption of gliovascular basal lamina assembly.
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Additionally, transcriptomic investigation of muscles showed 2020 differentially expressed genes, mainly associated with the impaired muscle cytoskeleton and development. In summary, this study provided potentially useful information for understanding the molecular pathogenesis of LAMA2-MD.
Links
Where it is published
- Repository landing page datadryad.org/dataset/doi:10.5061/dryad.3j9kd51xs ↗
landing page · from DataCite
- DOI doi.org/10.5061/dryad.3j9kd51xs ↗
DOI / persistent id · from DataCite
Documentation and papers
- Creative Commons Zero v1.0 Universal creativecommons.org/publicdomain/zero/1.0/legalcode ↗
license · from DataCite
- IsCitedBy 10.7554/elife.94288.4 doi.org/10.7554/elife.94288.4 ↗
publication · from DataCite
Catalogue records · 2
- DataCite API api.datacite.org/dois/10.5061/dryad.3j9kd51xs ↗
metadata API · from DataCite
- DataCite Commons commons.datacite.org/doi.org/10.5061/dryad.3j9kd51xs ↗
catalogue entry · from DataCite
Topics
- Stated by source
- Basic medicine · Natural sciences
- From keywords
- Single-cell RNA sequencing
- Inferred from text
- RNA sequencing 65%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| DataCite | 10.5061/dryad.3j9kd51xs | 14 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| byte_size | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:basic-medicine | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:natural-sciences | source · DataCite | connector:datacite@1.0.0 | |
| concepts[modality].local:modality:rna-seq | enrichment · DataCite | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[modality].local:modality:single-cell-rna-seq | mapping · DataCite | vocabulary-mapper@1.0.0 | keywords['single cell RNA sequencing'] |
| created_date | source · DataCite | connector:datacite@1.0.0 | |
| description | source · DataCite | connector:datacite@1.0.0 | /data/attributes/descriptions |
| license | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| publication_date | source · DataCite | connector:datacite@1.0.0 | /data/attributes/dates |
| title | source · DataCite | connector:datacite@1.0.0 | /data/attributes/titles/0/title |
| version_label | source · DataCite | connector:datacite@1.0.0 |