IMPC phenotypes (gene matching)
C3El.Cg-Ldhaa-m1Neu/Ieg
| Status | Available to order |
| EMMA ID | EM:00302 |
| Citation information | RRID:IMSR_EM:00302 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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 ;