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CRISPR/Cas9 technology introduced a G to A change at position 3452 (c.3452G>A) resulting in an arginine to glutamine substitution at residue 1151 (p.R1151Q) corresponding to the most common gain of function human R1154Q mutation seen in individuals with Catnu syndrome. Unexpected mRNA splicing leads to an in-frame deletion of exon 28 and loss of functional protein. (J:308986)
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
