CRISPR/Cas9 mutagenesis was used to generate a site in exon 14 (c.1665ins) to insert a 3-stop donor cassette, providing integration of an ochre termination codon in all three reading frames into the endogenous gene. This mutation introduced a truncation in the protein reading frame at codon 555. (J:269442)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
Insertion
--
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

Title
PMID
Journal
Year
IF
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