A loxP flanked PGK-neo-stop cassette upstream of the Yellow Fluorescent Protein (YFP) and mouse gene (SMO/EYFP) was inserted into the locus. The mutant allele consists of a fusion product involving YFP and the constitutively active W539L point mutation of the mouse gene (SmoM2), which corresponds to the W535L mutation in the human sequence. Expression of the fusion gene is blocked by a loxP-flanked STOP fragment placed between the endogenous promoter and the fusion sequence. (J:89445)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
129X1/SvJ
Targeted
Insertion
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--
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171

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

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PMID
Journal
Year
IF
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