ENU-induced C to T transition at base pair 113,271,374 (v38) on chromosome 12, or base pair 1,875 in the GenBank genomic region NC_000078 encoding Ighe. The mutation corresponds to residue 1,167 in the cDNA sequence ENSMUST00000137336.2 within exon 4 of 4 total exons. The mutation results in substitution of glutamine (Q) to a premature stop codon (Q389*) in the Ighe protein. (J:267480)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
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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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