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A 1.6-kb fragment containing exons 6-9 was replaced with a nuclear localization signal and LacZ reporter gene, the Engrailed-2 intron and splice acceptor site (En-2/SA), and an internal ribosome entry site followed by a loxP-flanked phosphoglycerine kinase (PGK)-neomycin resistance gene. The loxP-flanked PGK-neomycin resistance gene was removed via Cre-mediated recombination in the germline. Western blot analysis using a monoclonal anti-TMC8 antibody confirmed the complete absence of protein expression in cell lysates from homozygous mutant thymocytes. (J:300461)
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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References Literature
Title
PMID
Journal
Year
IF
