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CRISPR/Cas9 technology deleted exon 3 and part of the surrounding introns (total of 157 nucleotides) leading to truncation after V47. This truncation removes 3279 of 3326 residues of the protein. Western blot analysis with an antibody against the C-terminal 15 residues confirmed absence of protein in the brain. (J:291847)
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
