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Exon 10 was completely replaced with a PGK promoter and neomycin resistance gene cassette and a loxP site was inserted further downstream in intron 10. A correctly targeted ES cell line was further modified by the insertion of a loxP site flanked PGK promoter and hygromycin resistance gene cassette and an En-2 splice acceptor-IRES-LacZ expression cassette into exon 24. Removal of exon 10 causes a frame shift mutation, which disrupts the highly conserved formin homology domain SH2 and results in a protein product that includes out-of-frame translation after exon 9. (J:91385)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
