The insertion of a neomycin selection cassette disrupted exon 2, which encodes the 5' untranslated region, the start codon, and the majority of the signal peptide. Northern blot and RT-PCR analyses identified an aberrant transcript in which exon 1 had spliced to exon 3. In vitro studies of the protein generated from a start codon in exon 3 of this transcript showed improper localization and post-translational processing. Specifically, cell surface expression of the mutant protein was reduced and it was largely unglycosylated. (J:65199)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
--
3

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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