Stock B6;129-Ptprc<tm1Holm>/H
FESA Number
1622
Strain Name
B6;129-Ptprc<tm1Holm>/H
Mutation Strain Type
Attribution
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 11 - 20 of 27 Stock Publications
| Pubmed ID | Authors | Title | Journal |
|---|---|---|---|
| 16505159 | Dawes R | Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection. | J Med Genet (2 006) 43:678-84 |
| 17339442 | Taylor SR | Regulatory T cells are resistant to apoptosis via TCR but not P2X7. | J Immunol (2 007) 178:3474-82 |
| 17277109 | Falahati R | Changes in the role of the CD45 protein tyrosine phosphatase in regulating Lck tyrosine phosphorylation during thymic development. | J Immunol (2 007) 178:2056-64 |
| 15302847 | Tchilian EZ | Altered CD45 isoform expression affects lymphocyte function in CD45 Tg mice. | Int Immunol (2 004) 16:1323-32 |
| 18941197 | Falahati R | Selective regulation of TCR signaling pathways by the CD45 protein tyrosine phosphatase during thymocyte development. | J Immunol (2 008) 181:6082-91 |
| 12393487 | Virts EL | A CD45 minigene restores regulated isoform expression and immune function in CD45-deficient mice: therapeutic implications for human CD45-null severe combined immunodeficiency. | Blood (2 003) 101:849-55 |
| 11201744 | Irie-Sasaki J | CD45 is a JAK phosphatase and negatively regulates cytokine receptor signalling. | Nature (2 001) 409:349-54 |
| 14749125 | Zhao R | An oncogenic tyrosine kinase inhibits DNA repair and DNA-damage-induced Bcl-xL deamidation in T cell transformation. | Cancer Cell (2 004) 5:37-49 |
| 20624943 | Lai JC | CD45 regulates migration, proliferation, and progression of double negative 1 thymocytes. | J Immunol (2 010) 185:2059-70 |
| 17177603 | Zhao R | DNA damage-induced Bcl-xL deamidation is mediated by NHE-1 antiport regulated intracellular pH. | PLoS Biol (2 007) 5:e1 |
Pages
Orphanet Categories
Rare immune disease
EMMA ID
EM:01736
Genetic Status
GMO
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