Akap4^em1Bbw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Akap4^em1Bbw
• Name: A kinase anchor protein 4; endonuclease-mediated mutation 1, Binbin Wang
• MGI ID: MGI:7707395
• Synonyms: Akap4^R428H
• Gene: Akap4 Location: ChrX:6933758-6944848 bp, + strand Genetic Position: ChrX, 3.17 cM
• Alliance: Akap4^em1Bbw page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a CGT to CAT change resulting in an arginine to histidine substitution at amino acid 428 (p.R428H). This corresponds to the pathogenic p.R429H variant identified in two siblings with non-obstructive azoospermia. Protein levels are reduced in the testes. (J:352416)

Expression

In Structures Affected by this Mutation:

1 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 Akap4 Mutation: 2 strains or lines available

References

• Original: J:352416 Wei H, et al., A pathogenic AKAP4 variant, p.R429H, causes male in/subfertility in humans and mice. Clin Transl Med. 2023 Dec;13(12):e1463
• All: 1 reference(s)