# Role of Genetically Determined Dental Abnormalities on Masticatory Performance and Adaptation in an Animal Model of Ellis-van Creveld Syndrome

> **NIH NIH F30** · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2020 · $25,780

## Abstract

ABSTRACT
 One of the most common congenital birth defects, craniofacial anomalies profoundly impact both form and
function within the oral cavity. Sustained dysmorphology and dysfunction impairs feeding, compromises
systemic health, and, ultimately, requires functional adaptation for survival. Chewing, the initial step in the
digestive process, is a ubiquitous yet intricately coordinated function that precisely integrates craniofacial
musculature and neural crest cell-derived components of the cranial system, specifically the jaws and teeth.
While changes such as tooth wear are known to occur over the course of a lifetime, less is known regarding
the role of genetically determined dental morphology on chewing kinematics and masticatory adaptation. Our
lab has developed a unique tool that allows us to specifically investigate the relationship between dental
morphology and masticatory function. This neural crest cell-specific, Evc2 conditional knockout (“Evc2 cKO”)
mouse model presents with an abnormal dental and craniofacial phenotype similar to human Ellis-van Creveld
syndrome patients. By specifically disrupting gene function in non-muscle cells, we seek to unravel the
relationship between genetically determined dental morphology and masticatory adaptive capacity and have
the potential to improve unbiased evaluation of oral performance in craniofacial anomaly patients. The overall
hypothesis of this proposal is that inherent molar abnormalities result in subphysiologic masticatory
patterns and muscle phenotypes that thereby impair masticatory adaptation.
 This project proposes the following aims: 1) characterization of the dentoskeletal morphology of our lab’s
unique Evc2 cKO mouse model, 2) analysis of the functional and masticatory variation resulting from
genetically determined (i.e. Evc2 deletion) craniofacial modification, and 3) evaluation of the physiological and
functional adaptive capacity of Evc2 cKO mice. The proposed in vivo experiments will make use of both
established and novel methodologies while evaluating dental morphology and adaptive capacity in an animal
model of human disease. The outcomes of these experiments will not only enhance our knowledge of the
relationship between form, function, and adaptation in the craniofacial region, but will also determine the
clinical utility of our lab’s unique mouse model. Furthermore, elucidating this relationship while simultaneously
developing new technique applications will be a key strategy for assessing other animal models of human
disease and ultimately affect how we manage craniofacial anomaly patients.

## Key facts

- **NIH application ID:** 9990166
- **Project number:** 1F30DE029667-01
- **Recipient organization:** UNIVERSITY OF MICHIGAN AT ANN ARBOR
- **Principal Investigator:** Ke'ale W Louie
- **Activity code:** F30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $25,780
- **Award type:** 1
- **Project period:** 2020-05-01 → 2020-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9990166

## Citation

> US National Institutes of Health, RePORTER application 9990166, Role of Genetically Determined Dental Abnormalities on Masticatory Performance and Adaptation in an Animal Model of Ellis-van Creveld Syndrome (1F30DE029667-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9990166. Licensed CC0.

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