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EN
ENU-induced A to G transition at base pair 113,416,199 (v38) on chromosome 12, or base pair 126 in the GenBank genomic region NC_000078. The mutation corresponds to residue 126 in the cDNA sequence ENSMUST00000194162.5 within exon 1 of 5 total exons. The mutation results in a lysine (K) to glutamic acid (E) substitution at position 42 (K42E) in the protein. (J:255202)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
