ENU mutagenesis induced an A to T transversion at base pair 43,450,983 (v38) on chromosome 17, or base pair 90,655 in the GenBank genomic region NC_000083. The mutation corresponds to residue 3,834 in the mRNA sequence NM_001081178 within exon 17 of 21 total exons. The mutation results in a serine (S) to cysteine (C) substitution at position 1,190 (S1190C). (J:225045)

Basic Information

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