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CRISPR/Cas9 technology generated an A to G (c.1337A>G) change resulting in a tyrosine to cysteine substitution at amino acid 446 (p.Y446C) in exon 14. This is a mutation reported as the genetic cause of Pierpont Syndrome. (J:335355)
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
