Stock B6;129-Ptprc<tm1Holm>/H
FESA Number
1622
Strain Name
B6;129-Ptprc<tm1Holm>/H
Mutation Strain Type
| Mutation Type | Mutation Subtype | Strain Type |
|---|---|---|
| IMSR - Targeted mutation | IMSR - unclassified |
Attribution
| Institution name | Depositor / Originator | Name |
|---|---|---|
| Babraham Institute | Originator | Retained |
| Babraham Institute | Depositor | Retained |
Gene/Allele Information
| Allele Name | Allele MGI ID | Gene Name | Gene MGI ID | Chromosome |
|---|---|---|---|---|
| Ptprc<tm1Holm> | MGI:1857277 | Ptprc | MGI:97810 | 1 |
Phenotypic Description
Defective lymphocyte development, more severe in T lineage, severe combined immunodeficiency.
Orphanet Disorders
| OrphaNet ID | Name | Url |
|---|---|---|
| 169 157 | T-B+ severe combined immunodeficiency due to CD45 deficiency | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169157 |
Publications
Displaying 1 - 10 of 27 Stock Publications
| Pubmed ID | Authors | Title | Journal |
|---|---|---|---|
| 10970857 | Baker M | Development of T-leukaemias in CD45 tyrosine phosphatase-deficient mutant lck mice. | EMBO J (2 000) 19:4644-54 |
| 16771860 | Piercy J | CD45 negatively regulates tumour necrosis factor and interleukin-6 production in dendritic cells. | Immunology (2 006) 118:250-6 |
| 8666928 | Byth KF | CD45-null transgenic mice reveal a positive regulatory role for CD45 in early thymocyte development, in the selection of CD4+CD8+ thymocytes, and B cell maturation. | J Exp Med (1 996) 183:1707-18 |
| 10458749 | Pingel S | The CD45 tyrosine phosphatase regulates CD3-induced signal transduction and T cell development in recombinase-deficient mice: restoration of pre-TCR function by active p56(lck). | Eur J Immunol (1 999) 29:2376-84 |
| 24068938 | Caignard G | Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1. | PLoS Pathog (2 013) 9:e1003637 |
| 18448457 | Salmond RJ | CD4+ T cell hyper-responsiveness in CD45 transgenic mice is independent of isoform. | Int Immunol (2 008) 20:819-27 |
| 12612075 | Davidson D | Phosphorylation-dependent regulation of T-cell activation by PAG/Cbp, a lipid raft-associated transmembrane adaptor. | Mol Cell Biol (2 003) 23:2017-28 |
| 9190928 | Stone JD | Aberrant TCR-mediated signaling in CD45-null thymocytes involves dysfunctional regulation of Lck, Fyn, TCR-zeta, and ZAP-70. | J Immunol (1 997) 158:5773-82 |
| 16517710 | Dawes R | Combinations of CD45 isoforms are crucial for immune function and disease. | J Immunol (2 006) 176:3417-25 |
| 23936270 | St-Pierre J | A role for the protein tyrosine phosphatase CD45 in macrophage adhesion through the regulation of paxillin degradation. | PLoS One (2 013) 8:e71531 |
Pages
Orphanet Categories
Rare immune disease
EMMA ID
EM:01736
Genetic Status
GMO
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