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Record W4411482773 · doi:10.1139/cjas-2024-0077

Lethal white foal syndrome: a review

2025· review· en· W4411482773 on OpenAlexvenueno aff
H.A. Keppers, Michael Gonda

Bibliographic record

VenueCanadian Journal of Animal Science · 2025
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA regulation and disease
Canadian institutionsnot available
FundersSouth Dakota Agricultural Experiment Station
KeywordsFoalBiologyDiseasePhenotypePathologyMedicineGeneticsGene

Abstract

fetched live from OpenAlex

A congenital abnormality most commonly associated with frame overo American Paint horses is termed overo lethal white foal syndrome, lethal white foal syndrome (LWFS), or lethal white overo syndrome, where foals homozygous for a missense Ile118Lys mutation in endothelin-B receptor gene are born completely white with an abnormal intestinal tract. Parents with frame overo phenotype are at higher risk of producing overo lethal white foals; however, some breeds not known for spotted pattern phenotypes have also produced LWFS foals. The neural crest cells of affected foals do not differentiate into melanocytes and enteric neuronal ganglions leading to the phenotypic presentation. As the disease progresses, a lack of neuronal innervation at the intestinal obstruction leads to intestinal rupture, toxicity, and death. No cure for this disease is known. The disease can be prevented through genetic testing of parents whether from overo lineage or not. Other examples of disease models similar to LWFS include Hirschsprung disease and Waardenburg Shah Syndrome in human medicine and piebald lethal in mice and lethal spotting in rats.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.882
Threshold uncertainty score0.988

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.022
GPT teacher head0.314
Teacher spread0.292 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreReview

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".

Quick stats

Citations3
Published2025
Admission routes1
Has abstractyes

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