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A loxP site was inserted 371 bp upstream of exon 3, and an FRT site, loxP site, neomycin resistance gene, another FRT site and a third loxP site were inserted 351 bp downstream of exon 5. Flp-mediated recombination removed the selection cassette. Cre-mediated recombination deleted exons 3-5. Excision of these exons eliminates the part of the enzyme containing the catalytic residues 107HPGH110 encoded in exon 3 and introduces a stop codon following exons 6 and 7. RT-qPCR confirmed absence of transcript and immunofluorescence of skin and tarsal plate shows absence of protein. (J:308387)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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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References Literature
Title
PMID
Journal
Year
IF
