This strain is useful as a model of autosomal dominant osteopetrosis type 2 (ADO2). Targeted mutant mice express an F316L (CTT->CCT) mutant form of the mouse Clcn7 (chloride channel, voltage-sensitive 7) gene that corresponds to the human F318L missense mutation. 

The mutant allele is normally expressed and translated into protein, but the protein is non-functional. Expression of the mutant transcript was tested and detected in liver, kidney and long bones. Both heterozygotes and homozygotes are born at expected Mendelian ratios. Heterozygous mice are viable and fertile, although bone mass is increased at 12 weeks of age, compared to wildtype mice. IFNG treatment provides no benefit to the heterozygous animals. 

Homozygous mice are runted, do not have tooth eruption, have increased bone mineral density (as determined by DEXA) and die at approximately 1 month of age. This recapitulates the phenotype of Clcn7 knock-out mice.

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This strain is useful as a model of autosomal dominant osteopetrosis type 2 (ADO2). Targeted mutant mice express an F316L mutant form of the mouse Clcn7 gene that corresponds to the human F318L missense mutation. Heterozygotes demonstrate increased bone mass at 12 weeks of age. Homozygotes are runted, do not have tooth eruption, have increased bone mineral density, and die by approximately 1 month of age.

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Our minimum guarantee for cryorecovery orders is 2 carriers. To ensure that your colony can be rapidly expanded upon arrival, additional carriers may be added to your order.