ENU-induced T to A transversion at base pair 45,402,981 (v38) on chromosome 8, or base pair 8,969 in the GenBank genomic region NC_000074. The mutation corresponds to residue 522 in the mRNA sequence NM_126166 within exon 4 of 7 total exons. The mutation results in an isoleucine (I) to lysine (K) substitution at position 54 (I54K) in the protein. (J:254925)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
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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