The targeting vector is designed to insert a loxP site upstream of exon 8, and a FRT-flanked neomycin resistance cassette followed by a second loxP site downstream of exon 8. Exon 8 also contains a 952delT mutation that corresponds to the 967delT human mutation associated with autosomal dominant congenital stromal corneal dystrophy (CSCD). Flp-mediated recombination removed the FRT-flanked neo cassette and cre-mediated recombination removed exon 8. (J:223791)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
--
1
1
2

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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