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The molecular lesion, created using CRISPR/Cas9 technology, is a substitution of an A with a TG doublet in exon 2 (c.164delAinsTG, mRNA sequence GenBank NM_026511), which generates a frameshift resulting in a truncated protein (p.Asp55Valfs*20). Skeletal muscle and liver mRNA levels were reduced to 25% and 50%, respectively. (J:277865)
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
