Absence of mutations in the survival motor neuron cDNA from labrador retrievers with an inherited myopathy
Bibliographic record
Abstract
The clinical phenotype of hereditary myopathy of labrador retrievers is consistent, but the pathological changes within muscle biopsy specimens can vary from type 1 fibre predominance (type 2 fibre deficiency) to dystrophic changes or overt neurogenic atrophy. The condition shares many clinical and pathological features with the mildest form of human childhood spinal muscular atrophy, and the survival motor neuron gene was therefore evaluated in dogs with the disease. Direct sequencing and comparisons of cdna from the gene in seven labrador retrievers homozygous for the disease and four control dogs revealed no nucleotide mutations leading to changes in the deduced amino acid sequences. A single polymorphism was detected in two of the seven affected dogs, which was characterised by a nucleotide substitution at amino acid position 1155 within the non-coding 3' untranslated region of exon 8. Northern blot analysis indicated that there were no differences in the steady state levels of mrna from the gene of the affected labrador retrievers and control dogs.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| 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 | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".