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A G>A point mutation was introduced using the CRISPR/Cas9 system and sgRNA 5'-CTCCAAACATGGCCGACTGC-3'. The point mutation in the kinase domain changes aspartic acid codon 280 to an asparagine codon (p.Asp280Asn or p.D280N) and creates a kinase-dead allele. Glycerol kinase activity assays showed kinase activity reduced to less than 10% of wild-type. (J:243852)
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
