Maple Syrup Urine Disease Model
Obesity ModelsDiabetes ModelsAndrogenetic Alopecia (AGA) ModelsMASH ModelsChronic Liver Fibrosis ModelsAcute Liver Injury ModelsChronic Kindey Disease (CKD) ModelsCholestasis ModelsAlcohol-related Liver Disease (ALD) ModelsActue Kindey Disease (AKD) ModelsDiabetes Nephropathy (Diabetic Kidney Disease) ModelsOsteoporosis ModelsSarcopenia ModelsGout/Hyperuricemia ModelsFemale Reproduction Models
Hemophilia ModelsProgressive Familial Intrahepatic Cholestasis ModelsAutosomal Dominant Polycystic Kidney Disease (ADPKD)Glycogen Storage Disease type 1a ModelGrowth Failure ModelsFabry Disease ModelsHepatolenticular Degeneration ModelNiemann-Pick Disease (Sphingomyelinosis) ModelsHypophosphatasia ModelGM2 Gangliosidoses ModelPulmonary Alveolar Proteinosis ModelLimb Girdle Muscular Dystrophies ModelMaple Syrup Urine Disease ModelMucopolysaccharidosis ModelsHutchinson-Gilford Progeria Syndrome ModelPhenylketonuria/Hyperphenylalaninemia ModelsUrea Cycle Disorders ModelsTyrosinemia ModelThalassemia Models
Maple syrup urine disease (MSUD) is an autosomal recessive disorder, characterized by a deficiency of the branched-chain alpha-keto acid dehydrogenase, which results in the accumulation of branched-chain amino acids leucine, isoleucine, and valine.
● Genetically Engineered MSUD Mouse Model
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Strain No.
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Strain Name | Strain Type | Description |
|---|---|---|---|
| T049844 | Bcat2-KO | Knockout | Homozygous Bcat-KO mice showed impaired survival and decreased body weight. Plasma branch chain amino acid (BCAA) levels are significantly elevated in both male and female homozygous Bcat-KO mice, which mimics the phenotype of maple syrup urine disease |