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Lacc1em1Arkr
Endonuclease-mediated Allele Detail
Summary
Symbol: Lacc1em1Arkr
Name: laccase domain containing 1; endonuclease-mediated mutation 1, Arthur Kaser
MGI ID: MGI:6117843
Synonyms: line 7, mFaminp254I
Gene: Lacc1  Location: Chr14:77261640-77274344 bp, - strand  Genetic Position: Chr14, 40.63 cM
Alliance: Lacc1em1Arkr page
Mutation
origin
Strain of Origin:  C57BL/6NTac
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR 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). This allele mimics the human protective 'non-risk' variant against leprosy (an infection caused by Mycobacterium leprae) and Crohn's disease. (J:244365)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory