Ikzf3em4Itan
Endonuclease-mediated Allele Detail
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Symbol: |
Ikzf3em4Itan |
Name: |
IKAROS family zinc finger 3; endonuclease-mediated mutation 4, Ichiro Taniuchi |
MGI ID: |
MGI:7539398 |
Synonyms: |
Ikzf3N159S |
Gene: |
Ikzf3 Location: Chr11:98355728-98436857 bp, - strand Genetic Position: Chr11, 61.75 cM
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Alliance: |
Ikzf3em4Itan page
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Allele Type: |
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Endonuclease-mediated (Humanized sequence) |
Mutation: |
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Nucleotide substitutions
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Mutation details: Asparagine codon 159 (AAC) in exon 5 was changed to serine (AGT) (p.N159S) using a crRNA (targeting GCAGTTTAATATGACGGAGAGG) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.N160S dominant-negative mutation associated with combined immunodeficiency (CID).
(J:340322)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Ikzf3 Mutation: |
30 strains or lines available
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Original: |
J:340322 Kuehn HS, et al., T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients. J Exp Med. 2021 Dec 6;218(12) |
All: |
2 reference(s) |
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