Lacc1^em4Arkr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lacc1^em4Arkr
• Name: laccase domain containing 1; endonuclease-mediated mutation 4, Arthur Kaser
• MGI ID: MGI:6118042
• Synonyms: line 9 wobble, mFamin^p284R
• Gene: Lacc1 Location: Chr14:77261640-77274344 bp, - strand Genetic Position: Chr14, 40.63 cM
• Alliance: Lacc1^em4Arkr page

Mutation origin

• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR guides introduced a TGT to ATC nucleotide substitutions in exon 5 that results in the amino acid substitution of arginine for cysteine at positione 284 (C284R) plus two downstream silence nucleotide substitutions. This allele mimics the human 'risk' variant for juvenile idiopathic arthritis and early-onset Crohn's disease. (J:244365)

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 Lacc1 Mutation: 28 strains or lines available

References

• Original: J:244365 Cader MZ, et al., C13orf31 (FAMIN) is a central regulator of immunometabolic function. Nat Immunol. 2016 Sep;17(9):1046-56
• All: 3 reference(s)