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CRISPR-Cas9 technology introduced a S236X mutation, which is similar to the R237X mutation identified in Weill-Marchesani syndrome patients, and results in a premature stop codon. The mutation site is immediately after the propeptide at the start of the catalytic domain. RT-PCR confirmed a 106 bp deletion. (J:266801)
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
