Forelimb Bone Length, Volume, and Shape in FGFR2P253R Apert Syndrome Mice at Birth
Open Access
Author:
Yoon, Melissa Su-kyung
Area of Honors:
Biological Anthropolgy
Degree:
Bachelor of Science
Document Type:
Thesis
Thesis Supervisors:
Joan Therese Richtsmeier, Thesis Supervisor Timothy Michael Ryan, Thesis Honors Advisor Susan Marie Perrine, Faculty Reader
Keywords:
Apert syndrome syndactyly forelimb FGFR2 P253R
Abstract:
This project investigates whether significant dysmorphology exists in bone length, volume, and shape between newborn (P0) mice carrying the murine orthologue of the P253R mutation on the fibroblast growth factor receptor 2 (FGFR2) gene, which causes Apert syndrome in humans. Apert syndrome is characterized by craniosynostosis and syndactyly of the hands and feet. However, a majority of the existing literature regarding Apert syndrome focuses on the effects on the cranium. The limited existing literature about syndactyly or abnormalities of the forelimb uses only qualitative observations for both human cases and mouse models, and state that the forelimb of the Fgfr2+/P253R mutant mice at P0 is the same as that of unaffected mice. A sample consisting of high resolution micro-computed tomography (μCT) scans of Fgfr2+/P253R mutant mice (n=12) and unaffected mice (n=10) of age P0 was used to compare the skeletal development of the phalanges, metacarpals, radii, ulni, humeri, scapulae, and clavicles by quantitatively analyzing three characteristics: length, volume, and shape. Overall, it was found that several bones throughout the forelimb are significantly different in the Fgfr2+/P253R mutant mice than in unaffected mice.