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Spontaneous Allele Detail
Symbol: P2rx7P451L
Name: purinergic receptor P2X, ligand-gated ion channel, 7; P451L
MGI ID: MGI:3042190
Gene: P2rx7  Location: Chr5:122643911-122691432 bp, + strand  Genetic Position: Chr5, 62.5 cM, cytoband F
Strain of Origin:  various
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsA proline to leucine change at amino acid residue 451 is caused by a T to C transition at nucleic acid base 1352. This mutation is found in C57BL/6, C57BL/10, DBA/1, and DBA/2 and contrasts with the condition in BALB/c, NZW, NOD, 129, Mus caroli, M. spretus, M. musculus, and M. poschiavinus. The mutation lies within a C-terminal cytoplasmic domain homologous with the TNFR 1-death domain and with an SH3 binding protein. (J:79540)
Inheritance:    Not Specified
View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 6 strains available      Cell Lines: 0 lines available
Carrying any P2rx7 Mutation:  15 strains or lines available
Original:  J:79540 Adriouch S, et al., Cutting Edge: A Natural P451L Mutation in the Cytoplasmic Domain Impairs the Function of the Mouse P2X7 Receptor. J Immunol. 2002 Oct 15;169(8):4108-12
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory