Piezo1^em1Dbee
Endonuclease-mediated Allele Detail

Summary

• Symbol: Piezo1^em1Dbee
• Name: piezo-type mechanosensitive ion channel component 1; endonuclease-mediated mutation 1, David J Beech
• MGI ID: MGI:8215377
• Synonyms: PIEZO1^M-R
• Gene: Piezo1 Location: Chr8:123208437-123278068 bp, - strand Genetic Position: Chr8, 71.31 cM
• Alliance: Piezo1^em1Dbee page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a methionine to arginine missense mutation at amino acid 2241 (p.M2241R). In addition, silent mutations were engineered to introduce a Mlu1 restriction enzyme recognition site to facilitate genotyping. This mutation corresponds to the human p.M2225R variant identified in dehydrated hereditary stomatocytosis. (J:368272)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

References

• Original: J:368272 Evans EL, et al., RBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis. Blood. 2020 Jul 2;136(1):140-144
• All: 2 reference(s)