Ldha<a-m1Neu> Chemically induced Allele Detail MGI Mouse (MGI:2384559)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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:	35 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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24