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CRISPR/Cas9 technology targeting the 5 end of exon 3 generated two one base pair deletions, and is predicted to result in a frameshift and premature stop codon. Exon 3 is shared by all transcripts and coding isoforms. Real-time qPCR showed a reduction in mRNA levels, likely due to NMD-mediated degradation of premature stop codon containing mRNA. Western blot analysis shows absence of protein. (J:325766)
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
