Rsrc1-flox Mouse

Rsrc1, or Arginine/serine‑rich coiled coil 1, is a gene significantly involved in mRNA constitutive and alternative splicing, as well as transcriptional regulation. It has been associated with various neurological disorders and cancers, indicating its broad biological importance. Genetic models, such as gene knockout (KO) or conditional knockout (CKO) mouse models, can potentially be used to further explore its functions [1,2,3].

In gastric cancer, RSRC1 functions as a tumor suppressor. Its downregulation in gastric cancer tissues is associated with poor patient prognosis. Knockdown of RSRC1 in gastric cancer cells promotes cell proliferation and migration, and it decreases the expression of the tumor suppressor gene PTEN [1].

In addition, RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability [2]. RSRC1 mutation in patients leads to aberrant splicing and transcription, downregulating IGFBP3, and causing an autosomal recessive syndrome of intellectual disability, aberrant behavior, hypotonia, and mild facial dysmorphism with normal brain MRI [3].

In conclusion, Rsrc1 plays crucial roles in multiple biological processes and disease conditions. Model-based research, especially through KO or CKO mouse models, has revealed its function as a tumor suppressor in gastric cancer and its association with intellectual disability. Understanding Rsrc1 contributes to a better comprehension of disease mechanisms in oncology and neurology.