Sbds-flox Mouse

Sbds, short for Shwachman-Bodian-Diamond syndrome gene, is crucial for ribosome biogenesis. It is involved in ribosomal RNA metabolism, stabilization of mitotic spindles, and cellular stress responses [1,4]. Mutations in Sbds cause Shwachman-Diamond syndrome (SDS), an autosomal recessive disorder with features like exocrine pancreatic insufficiency and hematological dysfunction [1,4]. Genetic models, such as zebrafish and mouse models, are valuable for studying Sbds.

In zebrafish, sbds-null zebrafish phenocopy many aspects of SDS. Expression of SBDS R126T transgene in sbds -/- background rescued survival in a dose-dependent manner, independent of Tp53. However, neutropenia persisted, and female sex differentiation was suppressed [2]. In mice, inducible Sbds deletion in hematopoietic and osteolineage cells led to poor donor hematopoietic recovery and specifically poor HSC engraftment after myeloablative BMT, indicating SBDS deficiency impacts recipient hematopoietic niche function in HSCT [3].

In conclusion, Sbds is essential for ribosome-related functions and normal development. Studies using gene-knockout models in zebrafish and mice have revealed its role in SDS-related phenotypes, such as hematological issues and bone marrow niche function in the context of transplantation. These findings contribute to understanding the pathophysiology of SDS and may guide development of novel therapeutic strategies.