Aqp4^em1Frgr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Aqp4^em1Frgr
• Name: aquaporin 4; endonuclease-mediated mutation 1, Antonio Frigeri
• MGI ID: MGI:7328536
• Synonyms: Aqp4ex-KO
• Gene: Aqp4 Location: Chr18:15522553-15544039 bp, - strand Genetic Position: Chr18, 8.74 cM
• Alliance: Aqp4^em1Frgr page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting changed the weak stop codon at position 969 with a strong codon UAA and introduced two successive stop codons preventing the production of the extended isoform. (J:323361)

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 Aqp4 Mutation: 46 strains or lines available

References

• Original: J:323361 Palazzo C, et al., AQP4ex is crucial for the anchoring of AQP4 at the astrocyte end-feet and for neuromyelitis optica antibody binding. Acta Neuropathol Commun. 2019 Apr 1;7(1):51
• All: 2 reference(s)