Searchable abstracts of presentations at key conferences in endocrinology

ea0077oc5.5 | Bone and Calcium | SFEBES2021

Diacylglycerol kinase delta haploinsufficiency in mice causes hypocalcaemia: relevance to human Autosomal Dominant Hypoclacemia (ADH)

Goldsworthy Michelle , Lovegrove Catherine , Moir Lee , Wiberg Akira , Turney Benjamin , Furniss Dominic , Hannan Fadil , Thakker Rajesh , Howles Sarah

Diacylglycerol kinase delta (DGKD) has been implicated in calcium homeostasis and nephrolithiasis by genome-wide association studies. We have previously demonstrated that alterations in expression of DGKD cause biased calcium-sensing receptor (CaSR) signalling in vitro. To further elucidate the physiological role of DGKD we examined the biochemical phenotype of a Dgkd-haploinsufficient (+/-) mutant mouse developed by the International Mouse Phenotyping Consor...