CRISPR/Cas9 technology generated a 26-bp deletion in the KRAB domain. This deletion leads to a frameshift and a protein that is translated from an internal AUG codon and lacks the first 42 amino acids, including several conserved residues of the KRAB A domain, which was confirmed in testis protein extracts by Western blot analysis. Protein levels of the N-terminal truncated protein are decreased in homozygous and heterozygous protein extracts (J:320904)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
CBA
Endonuclease-mediated
Intragenic deletion
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1
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1

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

References Literature

Title
PMID
Journal
Year
IF
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