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A single nucleotide (T) insertion into exon 1 was created using an sgRNA (targeting TCTCTCGGCAGCTCTGCCGC) and an ssODN template with CRISPR/Cas9 technology, resulting in a reading frame shift and premature stop codon (c.87_88insT, p.I30Yfs*10). The mutation mimics the same human mutation associated with severe infantile encephalopathy. (J:305399)
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
