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EN
Serine codon 559 (AGT) in exon 13 was changed to alanine (GCC) (p.S559A) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 13. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation prevents phosphorylation of the affected residue in the encoded peptide, which lowers its affinity for phosphatidylinositol 4,5bisphosphate (PIP2). (J:293605)
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
