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CRISPR/cas9 genome editing is used to introduce a S153P (TCT to CCT) missense mutation, and silent mutations, including F154F (TTC to TTT) and F156F (TTT to TTC), into exon 3. The two silent changes were introduced to prevent recutting of the targeted region. The mutation is orthologous to S155P in humans and is associated with multiple sulfatase deficiency (MSD). (J:334328)
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
