Log In|Sign Up
EN
The targeting vector was designed to have a loxP site upstream of exon 2, followed by an FRT-flanked neo cassette. An F3-flanked puromycin cassette followed by a second loxP site is located downstream of exon 6. Exons 2-6 were duplicated and inserted downstream of the second loxP site, and an L252P amino acid substitution (orthologous to the human L265P mutation) was introduced into duplicated exon 5. Flp-mediated recombination removed the neo and puromycin cassettes. (J:232098)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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
