Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp474 | Other diseases of bone and mineral metabolism | ECTS2013

Insertion of the clcn7 gene mutation pG213R in mouse induces autosomal dominant osteopetrosis type II

Fattore Andrea Del , Gray Amie K , Ichikawa Shoji , Chu Kang , Mohammad Khalid S , Capannolo Marta , Muraca Maurizio , Teti Anna , Econs Michael J , Alam Imranul

Autosomal dominant osteopetrosis type II (ADO2) is a rare osteosclerotic disease due heterozygous missense mutations of the CLC7 gene encoding the type seven chloride channel. Our two labs independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. Homozygous mice showed lack of tooth eruption and died within 30 days of age with severe osteopetrosis and central nervous system degenera...