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The insertion of a neomycin resistance gene resulted in the transcription of exons 1-4 joined to exons 11-13, with a frame shift after residue 211 and a premature stop codon at residue 235, skipping most of the 489 amino acids encoded by the wild-type transcript. Western blot showed the complete absence of wild-type protein in skeletal muscle. (J:92821)
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
