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A construct containing a modified version of exon 2 with two point mutations (ATGCTG to GAGCTC) in the P2 promoter and a floxed pgk-neo cassette in intron 2 was inserted replacing the endogenous sequence via homologous recombination. One of the point mutations in exon 2 converts methionine to glutamic acid while the second is silent.Cre mediated recombination then removed the neo cassette. The mutant gene expresses only the soluble isoform, expression of the membrane-bound isoform is absent. (J:333577)
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
