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ENU mutagenesis induced a T to A transversion at codon 718 in exon 2. This mutation results in the amino acid substitution of serine for cysteine at position 227 (C227S). The reduction in transcript expression was confirmed by RT-PCR and in situ hybridization analysis. (J:169660)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
