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Piezo1tm3.2Apat
Targeted Allele Detail
Summary
Symbol: Piezo1tm3.2Apat
Name: piezo-type mechanosensitive ion channel component 1; targeted mutation 3.2, Ardem Patapoutian
MGI ID: MGI:6154896
Synonyms: Piezo1GOF
Gene: Piezo1  Location: Chr8:123208437-123278068 bp, - strand  Genetic Position: Chr8, 71.31 cM
Alliance: Piezo1tm3.2Apat page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:261124
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA loxP site and FRT flanked neo cassette were inserted in intron 44, a synthetic Poly A signal, F3 flanked puro cassette and loxP site were inserted after exon 51, and a repeat of exons 45-51 with a CG7742-7743>AC (p.R2482H) mutation in exon 51 were inserted via homologous recombination. Recombinase mediated recombination removed the neo and puro cassettes, exons 45-51and the synthetic PolyA sequence allowing expression of the mutated exon 51. (J:261124)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Piezo1 Mutation:  89 strains or lines available
Notes
ES cell= TaconicArtemis
References
Original:  J:261124 Ma S, et al., Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection. Cell. 2018 Apr 5;173(2):443-455.e12
All:  4 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
03/18/2025
MGI 6.24
The Jackson Laboratory