A loxP site flanked neomycin resistance gene cassette was inserted into intron 8 and exon 9 was replaced with a version with an engineered C1165T point mutation. The point mutation gives rise to the mouse equivalent of the Dravet syndrome-associated human Q390X nonsense mutation (Q389X in mouse) in the encoded peptide. The neo cassette was removed through cre-mediated recombination. (J:224480)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x 129)F1
Targeted
Insertion, Single point
--
1
8
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top