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A construct consisting of the human beta actin promoter followed by a mutant cDNA for Wlds that contains engineered C>G point mutations changing arginine codons 213 and 215 to alanine (p.Arg213Ala, p.Arg215Ala), was injected into the pronuclei of fertilized (C57BL/6 x CBA)F1 eggs that do not express Wlds. The two mutations weaken or disable the nuclear localization signal, thus changing the localization of the translated peptide towards the cytoplasm. A small percentage of peptides is still directed to the nucleus. (J:144846)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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：
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References Literature
Title
PMID
Journal
Year
IF
