Primary Identifier | MGI:2451061 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Gusb |
Transmission | Germline | Strain of Origin | 129X1/SvJ |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Site directed mutagenesis was used to introduce a leucine to phenylalanine subsitution at residue 175 (L175F) of exon 2. This mutation corresponds to L176F, the most common mutation found in human GUS deficiency. |