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A stop codon was introduced in the cDNA sequence between the codons for amino acid residue 148 and 149. The modified cDNA sequence was then fused to the start codon of exon 1 along with IRES, a neomycin resistance gene and a polyadenylation sequence. RT-PCR of skin and heart specimens confirmed the presence of the modified mRNA transcript. The predicted soluble protein product was detected immunologically. (J:86547)
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
