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P2rx7P451L
Spontaneous Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  various
Mutation
description
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
Phenotypes
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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:  31 strains or lines available
References
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/19/2017
MGI 6.10
The Jackson Laboratory