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Tyrosine codon 255 (TAC) in exon 6 was changed to cysteine (TGC) (p.Y255C) and a loxP site and an FRT site flanked neomycin resistance gene cassette was inserted into intron 5 and a second loxP site into intron 8. The mutation is associated with congenital disorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) in humans. A silent C>A mutation was introduced in the 3rd base of codon 254 to create a diagnostic NdeI restriction site. The neo cassette was remove through subsequent flp-mediated recombination. (J:320423)
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
