A cassette containing beta-gal and neo was inserted to replace the majority of exons 2 and 3. Western blot detected a truncated protein of 45 kDa as opposed to the 55 kDa wild-type protein. The residual protein was generated by a splicing event that involved skipping the beta-gal and neo cassette. Exon 1 was spliced to exon 4 in frame in this mutant allele. Amino acids Leu20 to Met100 were deleted, including crucial structural elements of the protein and the C-terminal half of the putative bipartite nuclear localization sequence, rendering it functionally inactive. (J:102171)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top