ENU mutagenesis induced a T to C transversion at base pair 107,513,280 (v38) on chromosome 9, or base pair 113,401 in the GenBank genomic region NC_000075. The mutation corresponds to residue 1,139 in the mRNA sequence NM_001174047 within exon 10 of 39 total exons. The mutation results in a valine (V) to alanine (A) substitution at position 317 (V317A) in all protein variants. (J:224663)

Basic Information

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