IMPC phenotypes (gene matching)
- increased bone mineral density / IMPC
C3El.Cg-Tpi1a-m6Neu/Ieg
| Status | Available to order |
| EMMA ID | EM:02461 |
| Citation information | RRID:IMSR_EM:02461 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-Tpi1a-m6Neu/Ieg |
| Alternative name | TPI9770 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Tpi1a-m6Neu |
| 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 | Sequence analysis revealed a A to G mutation at position 149 in the Tpi1 gene. This mutation results in a Asp to Gly substitution at codon 50 in exon 2 at a highly conserved position located in the functional domain of the TPI protein which is responsible for the correct connection of the both dimer subunits. |
| Phenotypic information | Triosephosphate isomerase deficiency (approximately 57% residual activity in heterozygous mutants and around 13% residual activity in homozygous mutants) in blood and other organs. |
| Breeding history | Always backcrossing of heterozygous mutants animals with C3H/El animals. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
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 (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
- Triosephosphate isomerase activity-deficient mice show haemolytic anaemia in homozygous condition.;Pretsch Walter, ;2009;Genetics research;91;1-4; 19220926