CRISPR/cas9 genome editing used guide RNAs (TCTGAAGAATGAACAACATT and GGTTGGGAAGGGGTGAAGAG) to target exon 2. Donor DNAs were created to insert a G192R mutation (GGA to AGA, glycine to arginine) and a silent mutation N196N (AAT to AAC). The G192R (glycine to arginine) mutation has been identified in patients with X-linked dominant Parkinson's disease. (J:94077)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
4
--

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top