IMPC phenotypes (gene matching)
- increased bone mineral density / IMPC
C3.Cg-Tpi1a-M3Neu/Ieg
| Status | Available to order |
| EMMA ID | EM:01889 |
| Citation information | RRID:IMSR_EM:01889 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 | C3.Cg-Tpi1a-M3Neu/Ieg |
| Alternative name | TPI3502 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Tpi1a-M3Neu |
| Gene/Transgene symbol | Tpi1 |
Information from provider
| Provider | Walter Pretsch |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | The mutation is a A-to-C transversion at codon 248. This results in the alteration of the stop codon for a cysteine. The predicted protein contains 19 additional amino acids at the carboxy terminus. |
| Phenotypic information | Triosephosphate isomerase deficiency (approximately 50% residual activity in heterozygous mutants) in blood and other organs. |
| Breeding history | C3H (42nd 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
- Triose phosphate-isomerase deficiency / Orphanet_868
MGI phenotypes (allele matching)
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
MGI phenotypes (gene matching)
- decreased hematocrit / MGI
- abnormal erythropoiesis / MGI
- macrocytosis / MGI
- enlarged spleen / MGI
- decreased body weight / MGI
- hemolytic anemia / MGI
- abnormal homeostasis / MGI
- no abnormal phenotype detected / MGI
- abnormal spleen red pulp morphology / MGI
- increased mean corpuscular volume / MGI
- reticulocytosis / MGI
- macrocytic anemia / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- nervous system phenotype / MGI
- abnormal erythrocyte physiology / MGI
- increased spleen weight / MGI
- polychromatophilia / MGI
- increased circulating bilirubin level / MGI
- increased mean corpuscular hemoglobin / MGI
- abnormal enzyme/coenzyme activity / MGI
- decreased mean corpuscular hemoglobin concentration / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
Literature references
- Linear dose-response relationship of erythrocyte enzyme-activity mutations in offspring of ethylnitrosourea-treated mice.;Charles D J, Pretsch W, ;1987;Mutation research;176;81-91; 3796661
- Tpi-1 and Gapd are linked very closely on mouse chromosome 6.;Pretsch W, Neuhäuser-Klaus A, Merkle S, ;1991;Genetical research;57;37-40; 2040452
- Molecular analysis of four ENU induced triosephosphate isomerase null mutants in Mus musculus.;Zingg B C, Pretsch W, Mohrenweiser H W, ;1995;Mutation research;328;163-73; 7739600