Our group demonstrated the potential of this approach using a murine model of autosomal recessive osteopetrosis (ARO) carrying a homozygous mutation in T cell immune regulator 1 (Tcirg1), the most frequently mutated gene in this disease, which encodes a subunit of the V-ATPase proton channel. Here, TCIRG1 is linked to autosomal recessive osteopetrosis.