Ontology highlight
ABSTRACT:
SUBMITTER: Nijnik A
PROVIDER: S-EPMC2689126 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
The Journal of clinical investigation 20090518 6
Hypomorphic mutations in DNA ligase IV (LIG4) cause a human syndrome of immunodeficiency, radiosensitivity, and growth retardation due to defective DNA repair by the nonhomologous end-joining (NHEJ) pathway. Lig4-null mice are embryonic lethal, and better mouse models are needed to study human LigIV syndrome. We recently identified a viable mouse strain with a Y288C hypomorphic mutation in the Lig4 gene. Lig4Y288C mice exhibit a greater than 10-fold reduction of LigIV activity in vivo and recapi ...[more]