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EN
A loxP-flanked exon 20 with amino acid substitution of serine to alanine at position 729 (S729A), followed by a FRT-PGK-neo-FRT cassette was inserted by homologous recombination. Flp-mediated recombination removed the neo-cassette. This point mutation results in an enzyme inactive form of the protein. No change in subcellular localization was detected by immunohistochemical analysis. (J:209219)
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
