Primary Identifier | MGI:6157363 | Allele Type | Targeted |
Attribute String | Hypomorph | Gene | Mmut |
Transmission | Germline | Strain of Origin | C57BL/6 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A targeting vector was designed to replace thymine with adenine at position 2093, resulting in a methionine to lysine mutation at amino acid 698 (M698K) in exon 12, which corresponds to the human M700L missense mutation seen in some methylmalonic aciduria patients. A FRT-flanked neomycin selection cassette was inserted downstream of exon 12 and was removed via FLP-mediated recombination. Western blot analysis indicates significantly reduced level of protein in homozygotes and Mut enzyme activity is greatly decreased. |