The targeting construct is designed to insert a loxP- and an FRT-flanked neomycin (neo) resistance cassette downstream of coding region of the gene. Additionally, a nonsense mutation, R504X, is introduced in to exon 11. The mutation is analogous to the human mutation, R493X, and is commonly associated with frontotemporal dementia (FTD). Flp-mediated recombination removed the FRT-flanked neo cassette. (J:101977)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
--
1
9
6

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

References Literature

Title
PMID
Journal
Year
IF
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