Growth Failure Models
The short stature in children due to growth hormone deficiency is termed growth hormone deficiency (GHD), also known as pituitary dwarfism. Primary growth hormone deficiency, for the majority of cases with no identified cause and only a small proportion having a family history, follows an autosomal recessive inheritance pattern. It involves mutations in the GH1 gene or the growth hormone-releasing hormone receptor (GHRHR) gene, along with defects in genes associated with pituitary gland development.
● Genetically Engineered GHD Mouse Model
Strain No. | Strain Name | Strain Type | Description |
Knockout | Homozygous Gh-KO mice display developmental retardation, including significantly reduced body weight and body length compared to those of heterozygous and wild-type mice from 3 weeks old. Gh protein and plasma IGF1 are rarely detected in homozygous Gh-KO mice. Insulin level and weight of multiple organs other than the brain are also reduced. Recombinant human GH treatment can paritally attenuate the disease-like phenotype. |
Primary IGF-1 deficiency (PIGFD), also referred to as growth hormone insensitivity syndrome (GHIS), is a disorder characterized by short stature despite normal growth hormone (GH) levels, accompanied by low serum IGF-1 concentrations.
● Genetically Engineered PIGFD Mouse Model
Strain No. | Strain Name | Strain Type | Description |
Knockout | Homozygous Igf1-KO mice show embryonic lethality. Heterozygous Igf1-KO mice display reduced body weight and serum IGF-1 level from 3 weeks old, mimicing primary IGF-1 deficiency in human. However, the difference on serum IGF-1 concentration decreases with the increase of the age of mice |
Laron syndrome, also termed primary growth hormone insensitivity syndrome (GHIS), is a rare autosomal recessive disorder caused by impaired responsiveness to growth hormone (GH). This condition results from pathogenic mutations in the growth hormone receptor (GHR) gene, leading to disruption of the GH-IGF1 signaling axis.
● Genetically Engineered Laron Syndrome Mouse Model
Strain No. | Strain Name | Strain Type | Description |
Knockout | Homozygous Ghr-KO mice display developmental retardation, including significantly reduced body weight and body length compared to those of heterozygous and wild-type mice, which mimics Laron syndrome in human. |