IMPC phenotypes (gene matching)
C3El.Cg-Ldhaa-m1Neu/Ieg
| Status | Available to order |
| EMMA ID | EM:00302 |
| International strain name | C3El.Cg-Ldhaa-m1Neu/Ieg |
| Alternative name | LDH 1592 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Ldhaa-m1Neu |
| Gene/Transgene symbol | Ldha |
Information from provider
| Provider | Walter Pretsch |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | Transversion G to C in codon 222 of exon 5 (Asp to His) of the Ldha (Ldh-1) gene. |
| Phenotypic information | LDH activity deficiency (60% wild-type activity in heterozygous and 10% in homozygous mutants) and charge alterations (polyacrylamide gel isoelectric focusing). |
| Breeding history | C3H/El (52nd generation). |
| References |
|
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency / Orphanet_284426
MGI phenotypes (allele matching)
- decreased hematocrit / MGI
- hemolytic anemia / MGI
- reticulocytosis / MGI
- increased heart weight / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- increased liver weight / MGI
- increased circulating bilirubin level / MGI
- increased lung weight / MGI
- increased neutrophil cell number / MGI
- spleen hyperplasia / MGI
- abnormal erythrocyte morphology / MGI
- increased mean corpuscular volume / MGI
- increased spleen weight / MGI
- abnormal common myeloid progenitor cell morphology / MGI
- abnormal leukocyte morphology / MGI
MGI phenotypes (gene matching)
- decreased circulating HDL cholesterol level / MGI
- decreased hematocrit / MGI
- increased neutrophil cell number / MGI
- spleen hyperplasia / MGI
- decreased body size / MGI
- hemolytic anemia / MGI
- no abnormal phenotype detected / MGI
- abnormal erythrocyte morphology / MGI
- increased mean corpuscular volume / MGI
- reticulocytosis / MGI
- increased heart weight / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- decreased circulating alanine transaminase level / MGI
- decreased circulating alkaline phosphatase level / MGI
- increased liver weight / MGI
- increased spleen weight / MGI
- increased circulating bilirubin level / MGI
- hematopoietic system phenotype / MGI
- decreased lactate dehydrogenase level / MGI
- abnormal enzyme/coenzyme activity / MGI
- increased lung weight / MGI
- abnormal common myeloid progenitor cell morphology / MGI
- abnormal leukocyte morphology / MGI
- postnatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
Literature references
- A mutation affecting the lactate dehydrogenase locus Ldh-1 in the mouse-I. Genetical and electrophoretical characterization.;Charles D J, Pretsch W, ;1981;Biochemical genetics;19;301-9; 7247935
- A mutation affecting the lactate dehydrogenase locus Ldh-1 in the mouse. II. Mechanism of the LDH-A deficiency associated with hemolytic anemia.;Pretsch W, Merkle S, Favor J, Werner T, ;1993;Genetics;135;161-70; 8224816
- Mechanisms of compensation of hemolytic anemia in a lactate dehydrogenase mouse mutant.;Kremer J P, Datta T, Pretsch W, Charles D J, Dörmer P, ;1987;Experimental hematology;15;664-70; 3595765
- Molecular analysis of four lactate dehydrogenase-A mutants in the mouse.;Sandulache R, Pretsch W, Chatterjee B, Gimbel W, Graw J, Favor J, ;1994;Mammalian genome : official journal of the International Mammalian Genome Society;5;777-80; 7534515
- Genetical and biochemical characterization of a dominant mutation of mouse lactete dehydrogenase. ;Pretsch W, Charles D;1980;Electrophoresis ’79;;817-824 ;