Primary Identifier | MGI:2183489 | 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 a T-to-A transversion at codon 192 in exon 6. This is predicted to alter a leucine to a glycine in the H6 alpha-helix on the outer surface of the protein. TPI1 activity in heterozygotes is 50% that of wild-type in blood; and also reduced in liver, lung, spleen, kidney, brain, heart and muscle. |