Primary Identifier | MGI:2183492 | Allele Type | Chemically induced (ENU) |
Gene | Tpi1 | Inheritance Mode | Semidominant |
Strain of Origin | (101/El x C3H/El)F1 | Is Recombinase | false |
Is Wild Type | false |
molecularNote | The mutation is an A-to-C transversion at codon 248. This results in the alteration of the stop codon for a cysteine. The predicted protein contains 19 additional amino acids at the carboxy terminus. TPI1 activity in heterozygotes is 50% that of wild-type in blood; and also reduced in liver, lung, spleen, kidney, brain, heart and muscle. |