Ak9^em1Mdj
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ak9^em1Mdj
• Name: adenylate kinase 9; endonuclease-mediated mutation 1, Mark D Johnson
• MGI ID: MGI:7607935
• Synonyms: AK9^1373X
• Gene: Ak9 Location: Chr10:41179433-41309565 bp, + strand Genetic Position: Chr10, 22.23 cM
• Alliance: Ak9^em1Mdj page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: Asparagine codon 1356 (AAC) in exon 31 was changed to a stop codon (TAA) (ENSMUSP00000134177:p.N1356*) using an sgRNA and an ssODN template (TTCAATCGTACTGCAGCTAAGCGAAGGAGAGACAATCAAACCTGTTGAAAATGCAGAGAAtCCGCTGtAaCCTGTAATCCATCGTCACTACATCTATTTCTTATCTAATAAGCAAACTAAAGAGAAATTT) with CRISPR/Cas9 technology. The mutation is the equivalent of the human c.4119T>A:p.Y1373* mutation associated with idiopathic normal pressure hydrocephalus (iNPH). (J:344356)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Ak9 Mutation: 66 strains or lines available

References

• Original: J:344356 Yang HW, et al., A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus. Proc Natl Acad Sci U S A. 2023 Dec 19;120(51):e2300681120
• All: 1 reference(s)