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CRISPR/Cas9 technology generated a G to A change resulting in a substitution of aspartic acid to an asparagine at amino acid 137 (p.D137N). In addition, two synonymous mutations were also introduced: a C to T change to facilitate genotyping and a C to G change to mutate the PAM site and avoid repair templated cleavage by cas9. D137N is the most prevalent mutation found in French Canadians with chylomicron retention disease. (J:319817)
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
