IMPC phenotypes (gene matching)
FVB.129P2-Csf3rtm1Eur/Cnrm
| Status | Available to order |
| EMMA ID | EM:00053 |
| Citation information | RRID:IMSR_EM:00053 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 | FVB.129P2-Csf3rtm1Eur/Cnrm |
| Alternative name | Csfgr-delta715 |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Csf3rtm1Eur |
| Gene/Transgene symbol | Csf3r |
Information from provider
| Provider | Mirjam Hermans |
| Provider affiliation | Erasmus Univ.-Inst. Hematology |
| Genetic information | A nonsense mutation in the Csf3r (Gcsfr) gene at codon 715: firstly the mutation together with a loxP-flanked neo-TK cassette was introduced, then the neo-TK cassette was deleted by cre recombinase transfection. |
| Phenotypic information | Gcsfr-D715 mice have reduced numbers of blood neutrophils. However, when treated with G-CSF they have highly increased numbers of blood neutrophils due to hyperproliferation of neutrophil progenitor cells. |
| References |
|
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Chronic neutrophilic leukemia / Orphanet_86829
- Atypical chronic myeloid leukemia / Orphanet_98824
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency / Orphanet_420702
- Hereditary neutrophilia / Orphanet_279943
MGI phenotypes (gene matching)
- decreased neutrophil cell number / MGI
- decreased monocyte cell number / MGI
- increased bone marrow cell number / MGI
- decreased bone marrow cell number / MGI
- decreased granulocyte number / MGI
- abnormal hematopoietic system morphology/development / MGI
- abnormal bone marrow cell morphology/development / MGI
- abnormal myeloblast morphology/development / MGI
- abnormal neutrophil differentiation / MGI
- abnormal neutrophil physiology / MGI
- abnormal monocyte morphology / MGI
- decreased hematopoietic stem cell number / MGI
- immune system phenotype / MGI
- abnormal common myeloid progenitor cell morphology / MGI
- impaired neutrophil chemotaxis / MGI
Literature references
- Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia.;Hermans M H, Ward A C, Antonissen C, Karis A, Löwenberg B, Touw I P, ;1998;Blood;92;32-9; 9639496
- Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene.;Hermans M H, Antonissen C, Ward A C, Mayen A E, Ploemacher R E, Touw I P, ;1999;The Journal of experimental medicine;189;683-92; 9989983