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Whole-Animal Genetic Model to Mimic Aspects of the Patient Phenotype of Classic Galactosemia
Application
An animal model for studying the underlying causes of galactosemia and screening for novel drugs to treat the condition.
Key Benefits
The first animal model for elucidating the underlying causes of galactosemia in infants.
Animals with galactosemia causing genetic knockout exhibit similar disease phenotypes and complications...
Published: 7/30/2024
Contributor(s): Judith Fridovich-Keil
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3q29 Deletion Mice
Application
Mouse models with the deletion of 3q29 for the study of neurological disorders such as schizophrenia, autism, and anxiety disorders.
Technical Summary
Copy Number Variants (CNV’s) are large genomic deletion or duplications. One of the CNV’s, the 3q29 deletion, confers more than 40 fold increase in risk of schizophrenia. Most...
Published: 9/26/2024
Contributor(s): Tamara Caspary, David Weinshenker, Stephen Theodore Warren
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Human Induced Pluripotent Stem Cells
ApplicationHuman induced pluripotent stem cells useful for human stem cell biology, Lesch-Nyhan disease or DYT1 dystonia.Technical SummaryLesch-Nyhan syndrome (juvenile gout) is a rare, inherited disorder caused by deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease causes overproduction of uric acid often leading to gout...
Published: 9/26/2024
Contributor(s): Hyder Jinnah
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