IMPC phenotypes (gene matching)
B6.129S2-Gp1bbtm2Frla/Orl
| Status | Available to order |
| EMMA ID | EM:04328 |
| Citation information | RRID:IMSR_EM:04328 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 | B6.129S2-Gp1bbtm2Frla/Orl |
| Alternative name | GP1b béta delta IC-/- |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Gp1bbtm2Frla |
| Gene/Transgene symbol | Gp1bb |
Information from provider
| Provider | Francois Lanza |
| Provider affiliation | UMR Inserm UdS 949, EFS-Alsace |
| Genetic information | The knock-in construct (Gp1bbeta delta IC-/-; deleted intracellular domain) was obtained by introducing a stop codon after the transmembrane domain. |
| Phenotypic information | Analysis of the hematological parameters of Gp1bbeta delta IC-/- revealed the characteristic decreased platelet counts and enlarged platelets of the Bernard-Soulier syndrome but normal leukocyte and erythrocyte counts. Flow cytometry analysis showed that in Gp1bbeta delta IC -/- mice, Gp1bbeta and Gp1balpha are represented close to 20% of normal levels. |
| Breeding history | Backcrossed 15 generations with C57BL/6J mice. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | homozygous males, wild-type C57BL/6J females |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Bernard-Soulier syndrome / Orphanet_274
- Autosomal dominant macrothrombocytopenia / Orphanet_140957
Literature references
- Decreased thrombotic tendency in mouse models of the Bernard-Soulier syndrome.;Strassel C, Nonne C, Eckly A, David T, Leon C, Freund M, Cazenave J-P, Gachet C, Lanza F, ;2007;Arteriosclerosis, thrombosis, and vascular biology;27;241-7; 17095718