CRISPR/Cas9 genome editing technology was used to generate an allele with two simultaneous deletions: a 1,291bp deletion removing the region spanning the end of exon 1 to intron 5, and an 11bp deletion in exon 6. The deletions were expected to cause out-of-frame mutations, resulting in early termination of protein translation from the CTG start codon. Western blot and immunocytochemistry analyses confirmed the absence of encoded protein in homozygous null sperm. (J:337426)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6D2F1
Endonuclease-mediated
Intragenic deletion
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1
--
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

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PMID
Journal
Year
IF
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