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Site directed mutagenesis was used to generate a murine Prnp gene homologous to the D178N/V129 human variants linked to Creutzfeldt-Jakob disease. Five founder lines were created with this line containing 22 copies of the transgene. Transgenic protein levels in hemizygote brain were similar to endogenous protein levels, with about 50% of transgenic protein being insoluble. (J:142098)
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
