Atp6v0a1^em2Hisa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atp6v0a1^em2Hisa
• Name: ATPase, H+ transporting, lysosomal V0 subunit A1; endonuclease-mediated mutation 2, Hirotomo Saitsu
• MGI ID: MGI:6711346
• Synonyms: Atp6v0a1^A512P
• Gene: Atp6v0a1 Location: Chr11:100900278-100954545 bp, + strand Genetic Position: Chr11, 64.04 cM
• Alliance: Atp6v0a1^em2Hisa page

Mutation origin

• Strain of Origin: ICR

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to C change in exon 13 resulting in an alanine to proline substitution at residue 506 (p.A512P) which corresponds to the human A512P variant detected in an individual with developmental and epileptic encephalopathy. Immunostaining indicates that protein levels are decreased in the cortex, hippocampus, and cerebellum at P10. (J:305201)

Expression

In Structures Affected by this Mutation:

6 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 Atp6v0a1 Mutation: 44 strains or lines available

References

• Original: J:305201 Aoto K, et al., ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice. Nat Commun. 2021 Apr 8;12(1):2107
• All: 1 reference(s)