Factors affecting craniofacial development in a mouse model of Crouzon Syndrome
Bibliographic record
Abstract
Crouzon Syndrome (CS) is characterized by premature fusion of calvarial bones (craniosynostosis) as well facial malformations including midfacial hypoplasia and hypertelorism. The phenotype is variable, even when caused by the same mutation within the same family. The cause(s) of this variability remain unknown. Using a mouse model of CS, caused by a missense mutation in FGF Receptor 2, we investigate the role of age, sex, and parental genotype in the development of the craniofacial phenotype. Specimens were collected at E10.5–13.5, E17.5, P0, and at 12 weeks or more, andgenotyped. Specimens younger than 3 weeks were sexed using PCR for the SRY gene. 2D and 3D geometric morphometrics was used to compare craniofacial size and shape, using surface landmarks for embryos, and bones after birth. Wildtype and heterozygous groups were compared at each age, controlling for all other variables, to create a detailed picture of the ontogenetic progression of the CS phenotype caused by this mutation. Then, specimens were grouped by genotype and tested for differences in size and shape based on sex or parental genotypes. We identify when in development homozygous mutants, heterozygous mutants, and wildtype phenotyeps diverge in size and shape, and to what degree sex and parental genotypes affect the timing, severity, or variability of heterozygous and wildtype phenotypes at each age. Support or Funding Information Supported by NIH‐NIDCR grants F32DE024939 to KB and 2R01DE018234‐05A1 to RM and BH.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".