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CRISPR/Cas9 technology was used to delete exon 2. Reverse transcription and quantitative PCR analysis of heart and skeletal muscle confirmed that mRNA is either undetectable for the deleted region or reduced in abundance for the 3UTR, likely due to nonsense-mediated mRNA decay. Mass spectrometry-based multiple reaction monitoring confirmed absence of protein in the heart. (J:335523)
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
