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CRISPR/Cas9 technology using gRNA GAGAAGGATGTGTGAAGGCTTGG generated a 13 bp deletion (CTTCCAAGCCTTC) resulting in a frameshift mutation in exon 11. Immunoblot analysis confirmed the complete loss of protein expression of the long isoform in skeletal and heart muscle tissue. Short isoform expression in the white adipose tissue is not affected. (J:278917)
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
