Development, validation, and preliminary phenotypic characterization of a <i>Col6a3</i> knockout mouse model targeting exon 3
Bibliographic record
Abstract
Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein. Therefore, studying the consequence of knocking out the Col6a3 gene in mouse models is relevant, but the Col6a3 mouse models reported so far do not entirely abolish COL6A3 protein expression. Methods Here, we present the development, validation and preliminary phenotypic characterization of a novel CRISPR‐based knockout mouse model targeting Col6a3 exon 3 ( Col6a3 d3/d3 ). Results In this mouse model, Col6a3 mRNA is still expressed at a similar level to wild‐type littermates, although the expected protein is undetectable by mass spectrometry. Histological analysis of Col6a3 d3/d3 quadriceps revealed an abnormally high frequency of muscle cells with internally nucleated muscle cells, consistent with a myopathy phenotype. Interestingly, Col6a3 d3/d3 mice are smaller in size, with their fat, muscle, and bone kept proportional compared to wild‐type littermates. Conclusions In summary, we performed the validation and preliminary phenotypic characterization of a novel Col6a3 knockout mouse model that could be further characterized and used to study COL6A3 biology and model collagen VI‐associated diseases.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".