Primary Identifier | MGI:6393999 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Hmbs |
Transmission | Germline | Strain of Origin | 129/Sv x C57BL/6 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A GC to AG change at position 518-519 resulting in an arginine to glutamine substitution at amino acid 173 (R173Q) was introduced in exon 10 and a loxP-flanked neomycin cassette was inserted in intron 9. The neomycin selection cassette was removed via cre-mediated recombination. This is a mutation found in human dominant acute intermittent porphyria. |