Primary Identifier | MGI:6198574 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Dync1h1 |
Transmission | Germline | Strain of Origin | C57BL/6 x 129 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Exon 5 was replaced with one containing an A to G point mutation resulting in a histidine to arginine change at amino acid 304 (H304R) that corresponds to the human H306R mutation seen in Charcot-Marie-Tooth type 2O patients. A FRT-flanked neomycin resistance cassette was inserted in intron 5-6 and was removed via Flp-mediated recombination. Western blot analysis confirmed expression of the protein. |