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RISPR/Cas9 technology generated a frameshift 2-bp deletion in exon 7 from position +49,580 to +49,581 relative to the translation start site. Exon 7 is the most commonly mutated exon in Marshall-Smith Syndrome patients. The frameshift introduced a premature stop codon and led to the production of intermediate levels of mutant protein. MEFs express the mutant long isoform (315 bp) and the wild-type short isoform lacking exon 7 (194 bp). (J:343087)
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
