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Single guide RNA (5'-TCTCTACCATAACTCAATGT-3') is used to and insert a proline to serine substation at amino acid 154 (P154S, CCT to TCT) in exon 2. In addition, the silent nucleotide change G153G (GGC to GGA) is inserted to eliminate the PAM cutting site. The P154S mutation was found in a human ALS and FTD (frontotemporal lobar degeneration) patient. (J:334515)
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
