Causation for inherited equine night blindness
Bibliographic record
Abstract
Mutations associated with equine night blindness (CSNB) have been mapped to the Transient Receptor Potential cation channel family Member 1 (TRPM1) gene on ECA1. Reduced TRPM1 mRNA expression has been reported in retina and melanocytes in CSNB horses. A single unique intronic snp has been found in all CSNB horses examined to date. We hypothesize that this unique snp creates a binding site for the Nova intronic splicing enhancer which promotes aberrant splicing of an 80 bp downstream acceptor, therefore targeting TRPM1 mRNA for degradation. Nova‐1 and TRPM1 mRNA levels were measured in retina and in primary melanocyte cell lines established from the choroid of normal and CSNB horses. TRPM1 mRNA level in retina from a CSNB horse was 0.2% of that in the control horse retina. Choroidal melanocyes from normal and CSNB horses both had low TRPM1 mRNA levels similar to those observed in CSNB retina. We are investigating whether similar levels of TRPM1 mRNA in CSNB and normal melanocytes are due to removal of the effect of some upstream enhancer element in tissue culture, or result from insufficient Nova‐1 expression to cause the destabilizing TRPM1 mRNA splice event in CSNB melanocytes. Supported by the WCVM Canadian Vitamins Class Action Settlement Research Grant.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 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) | 0.016 | 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".