Homologous recombination was used to insert a selection cassette flanked by loxP sites in the first intron and an RRRR- to ATAA- mutation in exon 2 to delete a furin type proprotein convertase recognition sequence. Cre-mediated recombination removed the selection cassette. This mutation results in all protein being of the transmembrane form. Western blot confirmed the presence of transmembrane forms and absence of the shed form of the protein. (J:242846)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
3
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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