Ldha^a-m1Neu
Chemically induced Allele Detail

Summary

• Symbol: Ldha^a-m1Neu
• Name: lactate dehydrogenase A; mutation 1, Neuherberg
• MGI ID: MGI:2384559
• Synonyms: 1592, Ldh-1^c, Ldha^1Neu, Ldh^mut
• Gene: Ldha Location: Chr7:46491698-46505051 bp, + strand Genetic Position: Chr7, 30.6 cM
• Alliance: Ldha^a-m1Neu page

Mutation origin

• Strain of Origin: (101/El x C3H/El)F1

Mutation description

• Allele Type: Chemically induced (other)
• Mutation: Single point mutation
• Mutation details: 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. (J:22177)
• Inheritance: Codominant

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ldha Mutation: 34 strains or lines available

Notes

The Ldh1^a-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).

References

• Original: J:6530 Charles DJ, et al., A mutation affecting the lactate dehydrogenase locus Ldh-1 in the mouse-I. Genetical and electrophoretical characterization. Biochem Genet. 1981 Apr;19(3-4):301-9
• All: 7 reference(s)