ENU-induced a G to T transversion at base pair 37,897,550 (v38) on chromosome 18, or base pair 38,085 in the GenBank genomic region NC_000084. The mutation corresponds to residue 1,035 in the mRNA sequence NM_001305980 within exon 9 of 28 total exons. The mutation results in a substitution of glutamic acid 293 to a premature stop codon (E293*) in the protein. (J:254818)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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