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Gene Expression Data
Assay Details
Assay
Reference: J:283448 Sun SC, et al., Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain. 2019 Aug 1;142(8):2215-2229
Assay type: Immunohistochemistry
MGI Accession ID: MGI:6401195
Gene symbol: Col6a2
Gene name: collagen, type VI, alpha 2
Antibody: anti-Col6a2
Detection system: Secondary antibody
Results
Specimen 7E +/+: postnatal (more )
Structure Level Pattern Image Note
TS28: sciatic nerve Present 7E +/+ COL6A2

Specimen 7E +/I121N: postnatal; Cfap276em1Fuxi/Cfap276+ (more )
Structure Level Pattern Image Note
TS28: sciatic nerve Present 7E +/I121N COL6A2 Expression levels are significantly decreased in the mutant.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory