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The transgene contains the following elements: the mouse prion protein gene promoter and exon 1, intron 1 and exon 2, sequence coding for a FLAG tag in-frame with the human Ubqln2 cDNA that has been modified to change proline codon 506 into a threonine codon (p.P506T), and Prnp exon 3 and downstream sequence. The mutation is associated with familial frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). (J:267076)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
