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100 bp of exon 2, encoding most of the first transmembrane domain, was replaced by an IRES-geo-neo cassette. The insertion was 54 bp after the start codon of the endogenous coding sequence, and the presence of stop codons in three reading frames upstream of the IRES-geo-neo allowed interruption of translation of the endogenous mRNA 18 amino acids after the beginning. Southern blot confirmed recombination and Western blot indicated lack of wild-type protein in mutant brains. (J:91531)
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
