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The complete open reading frame for the Sox10 Q377X variant was inserted into exon 3 in such a way that the translation start for the mutant is at the wild-type position, and replaced all wild-type sequences (exons 3-5) behind the translation start. In addition, a floxed neomycin cassette was inserted into intron 2, which causes premature termination of transcription and prevents protein production. Immunohistochemistry confirmed absence of protein in E12.5 embryos. (J:260791)
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
