Ace^em1Vas
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ace^em1Vas
• Name: angiotensin I converting enzyme; endonuclease-mediated mutation 1, Robert Vassar
• MGI ID: MGI:8474007
• Synonyms: ACE1^KI
• Gene: Ace Location: Chr11:105858774-105880790 bp, + strand Genetic Position: Chr11, 68.84 cM
• Alliance: Ace^em1Vas page

Mutation origin

• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details:

  Arginine codon 1284 (CGG) in exon 25 was changed to glutamine (CAG) (NM_207624:G>A, p.R1284Q) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is equivalent to the human p.R1279Q mutation associated with higher Alzheimers disease (AD) risk in females. (J:296595)

Disease models

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 Ace Mutation: 59 strains or lines available

References

• Original: J:296595 Cuddy LK, et al., Abeta-accelerated neurodegeneration caused by Alzheimer's-associated ACE variant R1279Q is rescued by angiotensin system inhibition in mice. Sci Transl Med. 2020 Sep 30;12(563)
• All: 1 reference(s)