Log In|Sign Up
EN
The human mutation R192Q (p.R194Q in mouse) was knocked in to exon 4 via homologous recombination along with a floxed neo cassette. Mice carrying both the R194Q and the loxP site flanked neomycin resistance gene cassette were fertile and showed no overt phenotype. The neo cassette was removed through cre-mediated recombination. The presence of the mutation in the resulting animals was confirmed by PCR and restriction enzyme digestion. Semi-quantitative Western blot analysis indicated that the mutant protein was expressed as well as the normal protein. (J:88693)
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
