Exon 3 of the locus was replaced by a neomycin resistance cassette. RT-PCR analysis on homozygous liver extracts detected the presence of a truncated mRNA message corresponding to a splice variant that fused exon 2 to exon 4. Because exon 3 encoded a substrate binding site, it was hypothesized that any mutant protein transcribed from the truncated mRNA would lack carboxypeptidase activity. This was confirmed by a lack of terminal arginine cleavage on C3a and C5a complement proteins. (J:148315)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/SvImJ
Targeted
Insertion, Intragenic deletion
--
1
1
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:
Show/Hide columns
Phenotypes

References Literature

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