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CRISPR/Cas9 technology generated a 245 bp deletion that completely eliminated exon 50. DNA sequencing of RT-PCR products confirmed deletion of exon 50, which places the gene out of frame. Western blot analysis confirmed absence of protein in skeletal muscle and heart. (J:253191)
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
