Abstract：
:The R51Q mutation in sorting nexin 10 (SNX10) was shown to cause a lethal genetic disease in humans, namely autosomal recessive osteopetrosis (ARO). We describe here the first R51Q SNX10 knock-in mouse model and show that mice homozygous for this mutation exhibit massive, early-onset, and widespread osteopetrosis. The mutant mice exhibit multiple additional characteristics of the corresponding human disease, including stunted growth, failure to thrive, missing or impacted teeth, occasional osteomyelitis, and a significantly-reduced lifespan. Osteopetrosis in this model is the result of osteoclast inactivity that, in turn, is caused by absence of ruffled borders in the mutant osteoclasts and by their inability to secrete protons. These results confirm that the R51Q mutation in SNX10 is a causative factor in ARO and provide a model system for studying this rare disease.
journal_name
Bonejournal_title
Boneauthors
Stein M,Barnea-Zohar M,Shalev M,Arman E,Brenner O,Winograd-Katz S,Gerstung J,Thalji F,Kanaan M,Elinav H,Stepensky P,Geiger B,Tuckermann J,Elson Adoi
10.1016/j.bone.2020.115360subject
Has Abstractpub_date
2020-07-01 00:00:00pages
115360eissn
8756-3282issn
1873-2763pii
S8756-3282(20)30140-Xjournal_volume
136pub_type
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