Article
Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice.
Bone - 1 Jul 2020
Stein Merle, Barnea-Zohar Maayan, Shalev Moran, Arman Esther, Brenner Ori, Winograd-Katz Sabina, Gerstung Jennifer, Thalji Fadi, Kanaan Moien, Elinav Hila, Stepensky Polina, Geiger Benjamin, Tuckermann Jan, Elson Ari
Abstract excerpt
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,...
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