CRISPR mutagenesis was used to generate a 781 bp deletion that removed 88 bp out of 90 bp of exon 4 which encodes the C-terminus of the tetratricopeptide repeat (TPR) domain. This deletion resulted in the mistranslation of the remaining 2 bp of the mutant fourth exon. (J:258202)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129S2/SvPas x C57BL/6NSlc)F1-Tg(CAG-EGFP,Acr-EGFP)2Osb
Endonuclease-mediated
Intragenic deletion
--
1
2
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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