CRISPR/cas9 endonuclease mediated genome editing is used to introduce a 1 nucleotide deletion (GGCcAACGCCG to GGC-AACGCCG) in exon 5 (encodes the N-terminal portion of the DNA binding domain). This 1 nucleotide deletion causes a frame shift and premature truncation after an additional out-of-frame ~120 nucleotides - resulting in a 300 aa protein. (J:101977)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ
Endonuclease-mediated
Intragenic deletion
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1
4
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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

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PMID
Journal
Year
IF
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