Inbred Background Effects On Craniofacial Shape Dysmorphology In Mice With Spry Deletions
Bibliographic record
Abstract
A mutation's effect on craniofacial phenotype is modulated by genetic background, but associated developmental interactions are not well understood. Our objective was to quantify the influence of three inbred backgrounds (FVB, 129, BL6) on the expression of craniofacial dysmorphology associated with Sprouty (Spry) 1, 2, and 4 deletions in mice. We quantified adult morphology with landmarks placed on micro‐computed tomography derived surfaces of heterozygote and homozygote knockouts, and unaffected littermates of each background. Within a background strain, mice with two deletions differ strongly from controls, including a visually identifiable rounded cranium and shortened face in Spry 2 homozygotes. Although not as extreme, heterozygotes significantly differ in shape from controls in many cases. Deletion effects are significantly different between background strains after correcting for shape differences in background controls, including a larger reduction of the nasal aperture associated with Spry1 deletion on 129 background versus FVB. Spry 4 deletion on FVB results in a more projected upper face associated with diastema teeth, while the effect of it on C57 is minimal. There are significant background effects on expression of craniofacial dysmorphology associated with Spry deletions, patterns of which can help illuminate how modifier genes can influence the effects of major genetic perturbations. Grant Funding Source: NIH (1R01‐DE021708, DP2‐OD007191, RO1‐DE021420, F30‐DE022482); NSERC (238992‐12); CIHR fellowship through ACHRI to CJP
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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 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".