ENU mutagenesis induced a T to C transition at base pair 13,757,422 (v38) on chromosome 13, or base pair 167,091 in the GenBank genomic region NC_000079. The mutation corresponds to residue 10,815 in the mRNA sequence NM_010748.2 within exon 47 of 53 total exons. The mutation results in a phenylalanine (F) to serine (S) substitution at position 3545 (F3545S) in the protein. (J:217864)

Basic Information

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