CRISPR/cas9 genome editing is used to replace the tryptophan at position 392 with a nonsense codon, W392X (initially published as W329X), in exon 9 . W392X is analogous to the human W402X mutation associated with severe mucopolysaccharidosis type I (MPSI). (J:300121)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
7
1

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

References Literature

Title
PMID
Journal
Year
IF
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