Site-, strain- and mutation-specific osteopetrosis phenotypes in mice with Clcn7 variants

Heterozygous Clcn7 F318L/+ mice show consistently increased trabecular bone mass across vertebrae and femora over 12–52 weeks, in both sexes and multiple strain backgrounds.

• Why it matters: ADOII phenotypes vary widely despite similar CLCN7-linked disease, and the drivers of this variability are unclear.
• What they did: Using micro-computed tomography, micro-finite element analysis for vertebrae, and three-point bending for femora, the study compared Clcn7 F318L/+ and G213R/+ mice across ages (12, 24, 52 weeks), sexes, and strains (FVB/NJ, C57BL/6, 129).
• The result: The vertebral trabecular phenotype in F318L/+ increased with age and predicted higher stiffness and ultimate force, while femoral changes were more modest and site dependent, with strain effects differing by sex.

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