Searchable abstracts of presentations at key conferences in endocrinology

ea0013p10 | Bone | SFEBES2007

Calcium homeostasis and parathyroid function in Gata3 knockout mice: relevance to the human hypoparathyroidism, deafness and renal dysplasia syndrome

Grigorieva Irina , Harding Brian , Nesbit M Andrew , Fairclough Rebecca , Grigorieva Elena , Ali Asif , Hough Tertius , Fraser William , van Wees Jaqueline , Grosveld Frank , Thakker Rajesh

The Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations in the dual zinc-finger transcription factor GATA-3. Gata3 heterozygous (+/−) knockout mice develop deafness, while Gata3 homozygous (−/−) mice, which are embryonically lethal at 11.5 to 12.5 days post-coitum (dpc), develop renal hypoplasia. The parathyroids have not been studied, and we therefore investigated these mice for ...