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CRISPR/Cas9 technology introduced a tandem termination codon at bases 6691-6696 (ACCAAG to TAATGA) in exon 33 leading to a T2231X change and creating a truncated protein of 2230 amino acids versus 2318 in wild-type devoid of the PEST domain. This is a mutation identified in a patient with lateral meningocele syndrome. (J:270682)
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
