Modeling a human chromosome 21-associated disease
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Many people suffer from a disease that is yet to be diagnosed. The National Institutes of Health Undiagnosed Diseases Program (NIH-UDP) aims to diagnose these diseases. One of the cases presented to the NIH-UDP is that of a 7 year old patient homozygous for an A103G mutation in C21orf62 . C21orf62 is a protein-coding gene with unknown function. It is located on human chromosome 21 (Hsa21). Abnormalities of Hsa21 can lead to cognitive disorders, such as Down Syndrome (DS) which is caused by the presence of an extra copy of Hsa21. The patient with C21orf62(A103G) mutation exhibits cognitive and behavioral problems, similar to those observed in DS. Our lab is engineering a mouse model homozygous for the C21orf62(A103G) mutation. The mouse contains three regions in its genome orthologous to Hsa21, with C21orf62 located on mouse chromosome 16 (Mmu16). We built a construct containing the A103G mutation and successfully targeted this into mouse embryonic stem (ES) cells. These cells will be injected into mouse blastocysts to eventually develop a mouse model homozygous for this mutation. This novel model can be utilized for electrophysiological and behavioral analysis, in order to identify the possible relationship between the mutation and cognitive and developmental disorders.