Ontology highlight
ABSTRACT:
ORGANISM(S): Rattus Rattus
SUBMITTER:
Minglin Ou
PROVIDER: PXD060536 | iProX | Wed Feb 05 00:00:00 GMT 2025
REPOSITORIES: iProX

BMC biology 20250331 1
<h4>Background</h4>Heterozygous mutation of CLCN7 (R286W) is commonly found in patients with benign autosomal dominant osteopetrosis. However, there is no evidence from animal models to confirm that it is a disease mutation. And the characteristics of the bone marrow cell (BMC) landscape in osteopetrosis at the single-cell level are completely unknown till now.<h4>Results</h4>In this study, we generated the first autosomal dominant osteopetrosis type 2 (ADO2) mouse model with typical phenotypes ...[more]