Aass^em1Guow
Endonuclease-mediated Allele Detail

Summary

• Symbol: Aass^em1Guow
• Name: aminoadipate-semialdehyde synthase; endonuclease-mediated mutation 1, Weixiang Guo
• MGI ID: MGI:8398191
• Synonyms: Aass(R65Q)
• Gene: Aass Location: Chr6:23072172-23132985 bp, - strand Genetic Position: Chr6, 10.27 cM
• Alliance: Aass^em1Guow page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

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

  Arginine codon 65 (CGG) was changed to glutamine (CAG) (p.R65Q) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the lysine-ketoglutarate reductase (LKR) domain of the encoded protein, is the equivalent of the same human mutation associated with hyperlysinemia. (J:271165)

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 Aass Mutation: 61 strains or lines available

References

• Original: J:271165 Zhou J, et al., The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis. J Cell Biol. 2019 Feb 4;218(2):580-597
• All: 1 reference(s)