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Using BAC RP23-314P12, exon 6 was targeted for a mutation changing serine codon 89 to a glycin codon (p.S89G) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 6. The neo cassette was removed through subsequent flp-meditaed recombination. This mutation prevents the glycosylation of the residue in the encoded peptide. (J:278186)
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
