Exon 5 was engineered with a C to T mutation that altered the sequence to change codon 215 from one encoding glutamine to a premature stop codon (p.Q215*). A floxed neomycin selection cassette was also inserted downstream of exon 5 and subsequently removed via cre-mediated recombination. Western blot confirmed the production of a smaller truncated protein zero lacking 33 amino acids of the C-terminal intracellular domain and with a molecular weight of approximately 24 kDa that is expressed at low levels. This truncated protein shows altered trafficking to non-myelin plasma membranes. (J:171510, J:267903)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Single point
--
1
13
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