Loss function

Growth hormone receptor

Internal medicine

Phenotype

Receptor

Knockout mouse

Biology

Gene

Pathophysiology

Endocrinology

Growth hormone

Mutation

Signal transduction

Genetics

Hormone

Medicine

Gene knockout

Molecular Metabolism

Laron syndrome (LS) is a rare, autosomal recessive disorder in humans caused by loss-of-function mutations of the growth hormone receptor (GHR) gene. To establish a large animal model for LS, pigs with GHR knockout (KO) mutations were generated and characterized.

Growth hormone receptor-deficient pigs resemble the pathophysiology of human Laron syndrome and reveal altered activation of signaling cascades in the liver