Two stop codons in exon 6 were inserted in frame at the end of the sequences encoding the coiled-coil domian (CCD). This mutation allowed translation of glutamate E226 and E230 residues in the CCD required for WIPI2 binding and autophagy, while the linker region and WD (tryptophan-aspartic acid) domain are not expressed. An frt-flanked neomycin selection cassette was removed via FLP-mediated recombination in the germline. (J:284788)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
1
7

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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