IMPC phenotypes (gene matching)
B6.129S2-Gp1bbtm2Frla/Orl
| Status | Available to order |
| EMMA ID | EM:04328 |
| 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 , wild-type C57BL/6J |
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