ENU treatment induced a T-to-A transversion at base pair 121,211,313 (GRCm38) on chromosome 2, or base pair 79,013 in the GenBank genomic region NC_000068. The mutation corresponds to residue 3,890 in the mRNA sequence NM_013735 within exon 18 of 28 total exons. The mutation results in substitution of valine 1254 with an aspartic acid (p.V1254D) in the protein. (J:254852)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

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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