Searchable abstracts of presentations at key conferences in endocrinology

ea0019p7 | Bone | SFEBES2009

A mouse model, Hcalc1, for autosomal dominant hypercalciuria is due to a transient receptor potential cation channel, subfamily V, member 5 (Trpv5) mutation

Loh N , Stechman M , Ahmad B , Hannan F , Hough T , Chiev K-P , Stewart M , Bentley L , Cox R , Brown S , Thakker R

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...