MGI phenotypes (allele matching)
FVB.129P2-Csf3rtm1Eur/Cnrm
| Status | Available to order |
| EMMA ID | EM:00053 |
| 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 |
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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
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