Stock

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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