Fgfr2+/S252W Apert syndrome mice - mutants
Apert syndrome is an autosomal dominant disorder
characterized by malformations of the skull, limbs and
viscera. Two-thirds of affected individuals have a S252W
mutation in fibroblast growth factor receptor 2 (FGFR2).
To study the pathogenesis of this condition, we generated a
knock-in mouse model with this mutation. The Fgfr2+/S252W
mutant mice have abnormalities of the skeleton, as well as
of other organs including the brain, thymus, lungs, heart
and intestines.We have published additional analyses of these mice.
characterized by malformations of the skull, limbs and
viscera. Two-thirds of affected individuals have a S252W
mutation in fibroblast growth factor receptor 2 (FGFR2).
To study the pathogenesis of this condition, we generated a
knock-in mouse model with this mutation. The Fgfr2+/S252W
mutant mice have abnormalities of the skeleton, as well as
of other organs including the brain, thymus, lungs, heart
and intestines.We have published additional analyses of these mice.