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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Gene editing
Col1a1
tm1.1(tetO-IDH2*R140Q)Nbar
Alias:
Tet-R140Q
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Basic Information
Phenotypes
References Literature
A cassette containing a CMV/tetO promoter and a human IDH2 cDNA with an R140Q mutation was inserted in the 3' end of the gene. An FRT clanked selection cassette was also inserted and then removed by flp mediated recombination. (J:217109)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5695652
(C57BL/6 x 129S4/SvJae)F1
Targeted
Insertion, Nucleotide substitutions
--
1
24
1
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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