Anxa11^em1Lcu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Anxa11^em1Lcu
• Name: annexin A11; endonuclease-mediated mutation 1, Liying Cui
• MGI ID: MGI:8243872
• Synonyms: ANXA11-P36R
• Gene: Anxa11 Location: Chr14:25842580-25887228 bp, + strand Genetic Position: Chr14, 15.06 cM
• Alliance: Anxa11^em1Lcu 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 introduced a C to G change at position 104 (c.C104G) resulting in a proline to arginine substitution at amino acid 35 (p.P35R) which corresponds to the human p.P36R, which is a hotspot mutation in amyotrophic lateral sclerosis patients. A synonymous mutation was also introduced by substituting the shadowed base T to disrupt PAM recognition and prevent further cleavage at the mutated site. mRNA expression level and protein levels in the cortex are comparable to wild-type mice in both heterozygotes and homozygotes. (J:371245)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Anxa11 Mutation: 74 strains or lines available

References

• Original: J:371245 Liu Q, et al., Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment. Acta Neuropathol Commun. 2025 Jan 4;13(1):2
• All: 1 reference(s)