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Leucine codons 1 and 6 (CTG) in the alpha isoform (which is translated from an alternative CTG initiation codon 173 codons upstream of the canonical ATG codon) were replaced with glycine codons GGA (p.L1G, p.L6G). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 1 was removed through subsequent cre-mediated recombination. Western blot experiments confirmed the absence of alpha isoform peptide expression from this allele in the brain, while canonical isoform expression was unaffected. (J:256248)
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
