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A targeting vector was designed to insert an exon 15 with the G to A mutation at position 2531 coding for the glycine to aspartate substitution at amino acid 844 (G844D) and a puromycin resistance gene flanked by FRT sites in intron 15. The selection maker was removed via Flp-mediated recombination. This is equivalent to the most commonly found mutant allele (G843D) in patients with Zellweger spectrum disorder. (J:278655)
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
