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Etv6em3Knic
Endonuclease-mediated Allele Detail
Summary
Symbol: Etv6em3Knic
Name: ets variant 6; endonuclease-mediated mutation 3, Kim E Nichols
MGI ID: MGI:7568839
Synonyms: Etv6R355X
Gene: Etv6  Location: Chr6:134012663-134247121 bp, + strand  Genetic Position: Chr6, 64.58 cM, cytoband G2
Alliance: Etv6em3Knic page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence, Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsArginine codon 355 (CGA) in exon 6 was changed to a stop codon (TGA) (p.R355*) using an sgRNA and an ssODN template with CRISP/Cas9 technology. The mutation is the equivalent of the human p.R359* mutation associated with thrombocytopenia 5 (T5). (J:342774)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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
Carrying any Etv6 Mutation:  144 strains or lines available
References
Original:  J:342774 Bloom M, et al., ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice. Blood Adv. 2023 Sep 26;7(18):5608-5623
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory