A novel germline mutation in Big Blue® mice
Bibliographic record
Abstract
The Big Blue lacI mutation detection assay is well validated and has permitted detailed analysis of spontaneous mutations in individual tissues over the lifespan of the mouse. In a recent assay of spontaneous mutations, a novel lacI mutation (C354T) recurred in six of seven mutants with a second mutation. The frequency of spontaneous doublets (mutants with two nontandem mutations) was elevated 2.7-fold over that previously reported (Hill KA et al., [2004b]: Mutat Res 554:223-240) for normal tissues (6.3 x 10(-7) herein vs. 2.36 x 10(-7)). The average spacing between mutations in the doublets (237 bp) was greater than previously reported for spontaneous doublets. The frequency of C354T as a "hitchhiker" mutation in doublets was consistent with a germline mutation in one of 38 mutation targets in the Big Blue mouse genome. C354T is a missense mutation at a CpG dinucleotide producing a conservative amino acid change (Ala109Val) and a very light blue mutant phenotype. Mutant phenotypes of doublets with C354T were typical of the second mutation. C354T was observed in mutants from five tissues of five Big Blue mice. A bidirectional-PCR amplification of specific alleles (Bi-PASA) assay detected C354T in genomic DNA from multiple tissues of five Big Blue mice. These observations are consistent with a novel lacI C354T germline mutation in Big Blue mice that introduces a significant artifact in the analysis of spontaneous mutations. This finding reiterates the importance of identifying all mutations and examining new mutations in the context of our increasingly detailed knowledge of features of spontaneous murine mutations.
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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".