Snrnp25 is a candidate for the peri-implantation lethal phenotype of the Hba deletions.

ABSTRACT: Mutations in adult hemoglobin alpha genes in humans lead to blood disorders commonly known as α-thalassemia. In search of a mouse model for this disease, mutagenesis screens have identified several deletions that resemble these phenotypes. The Hba^b2(th) deletion, in particular, replicates the characteristics of alpha-thalassemia minor in heterozygous mice but presents a homozygous embryonic lethal phenotype. Previous analyses of Hba^b2(th) mice suggested that the deletion affects both Hba genes (Hba-a1 and Hba-a2) and considered epidermal growth factor receptor (Egfr) or rhomboid 5 homolog 1 (Rhbdf1) to be responsible for the embryonic lethality. Molecular analysis of Hba^b2(th) revealed a deletion spanning a 1 cM region of mouse chromosome 11. Importantly, t

SUBMITTER: Velasquez-Escobar AM 

PROVIDER: S-EPMC12408735 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature