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A nonsense mutation was introduced into exon 1, 12 codons downstream of the CUG start codon and upstream of the AUG start codon. A floxed hygro cassette was excised in vitro, leaving a single loxP site in a nonconserved region within in intron 1. Western blot analysis of homozygous mutant fetal kidney and testis tissue showed that while the CUG-initiated isoforms were undetected, normal levels of AUG-initiated isoforms were present. (J:82515)
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
