| Primary Identifier | MGI:2384559 | Allele Type | Chemically induced (other) |
| Gene | Ldha | Inheritance Mode | Codominant |
| Strain of Origin | (101/El x C3H/El)F1 | Is Recombinase | false |
| Is Wild Type | false |
| description | The Ldh1a-m1Neu mutation was induced by procarbazine hydrochloride. This mutation causes a change in the characteristics of the LDHA enzyme contributing to a decreased level of activity in homozygous or heterozygous mice. The resulting impaired energy metabolism of erythrocytes leads to a hemolytic anemia with reticulocytosis and hyperbilirubinemia. Affected mice do not, however, have impaired body weight, viability or fertility (J:14326). |
| molecularNote | This G-to-C transversion in codon 222 of exon 5 resulted in the substitution of an asparagine for a histidine residue. This mutation is in the catalytic domain and results in strongly reduced enzyme activity, decreased heat stability and increases the positive charge on the protein. |
