Amyotrophic lateral sclerosis (ALS), widely known as Lou Gehrig's disease, is a rare neurological disease characterized by the progressive loss of motor neurons that control voluntary muscles in the brain and spinal cord. ALS is a fatal disease, and there is no known cure to stop or reverse its progression. Though the exact pathophysiology of ALS is unclear, approximately 5–10% of the cases are familial and are mostly caused by genetic mutations. Environmental pollution, heavy metal poisoning, and viral infections are all possible factors.
In recent years, more than 20 genes associated with the pathogenesis of familial ALS have been identified. Aiming at the three prevalent ALS gene mutations (SOD1, RNF, and TDP-43), GemPharmatech has developed ALS models to support drug development requirements.
|Strain Name||Strain Type||Description|
|T054620||hTDP43<wtxA315T>||Transgenic||GemPharmatech has developed a B6-hTDP43 transgenic mouse model expressing the wildtype of human TDP43 and human TDP43 with A315T mutation site. This model can be used for the screening and safety evaluation of amyotrophic lateral sclerosis (ALS) therapeutics and pathogenic study of ALS.|
|T054274||B6-hRNF220||Cas9-KI||GemPharmatech has developed the B6-RNF220 mouse model expressing human RNF220. This model is suitable for the screening and safety evaluation of amyotrophic lateral sclerosis (ALS) therapies and the investigation of the regulation mechanism of ubiquitination.|
|T053675||Tg(hSOD1 G93A)||Transgenic||GemPharmatech obtained the human SOD1 fragment from BAC and modified the amino acid at position 93 to construct the hSOD1 G93A transgenic mouse model (glycine-alanine mutation at position 93). This model is suitable for amyotrophic lateral sclerosis (ALS) drug screening, safety evaluation, and pathogenesis research.|