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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Endonuclease-mediated
Nucleotide substitutions
--
1
2
3

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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