Lacc1^em2Arkr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lacc1^em2Arkr
• Name: laccase domain containing 1; endonuclease-mediated mutation 2, Arthur Kaser
• MGI ID: MGI:6118040
• Synonyms: line 7 wobble, mFamin^p254I
• Gene: Lacc1 Location: Chr14:77261640-77274344 bp, - strand Genetic Position: Chr14, 40.63 cM
• Alliance: Lacc1^em2Arkr page

Mutation origin

• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR guides introduced a GTG to ATC nucleotide substitutions in exon 5 that results in the amino acid substitution of isoleucine for valine at positione 254 (V254I) plus two upstream silence nucleotide substitutions. This allele mimics the human protective 'non-risk' variant against leprosy (an infection caused by Mycobacterium leprae) and 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: 26 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)