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EN
ENU-induced T to A transversion at base pair 41,110,847 (v38) on chromosome 12, or base pair 86,758 in the GenBank genomic region NC_000078. The mutation corresponds to residue 274 in the NM_053122 mRNA sequence in exon 4 of 7 total exons. The mutation results in substitution of leucine (L) 48 to a premature stop codon (L48*) in the coded protein. (J:236672)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
