Ontology highlight
ABSTRACT:
SUBMITTER: Weinstein MM
PROVIDER: S-EPMC4108531 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 20140801 8
Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expressing either wild-type or mutant TRPV4. Mice transgenic for wild-type Trpv4 showed no morphological changes at embryonic day 16.5 but did have a delay in bone mineralization. Overexpression of a mutant TRP ...[more]