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This mutation was discovered among G3 progeny of an ENU mutagenized mouse in a screen for susceptibility to induction of colitis by low doses of dextran sodium sulfate (DSS). The molecular change, in the second, last exon of the gene, results in a G to T transversion at nucleotide position 1944 of the mRNA that replaces the neutral arginine at amino acid position 648 with the polar leucine (R643L). (J:155728)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
