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Paxxem1Spj
Endonuclease-mediated Allele Detail
Summary
Symbol: Paxxem1Spj
Name: non-homologous end joining factor; endonuclease-mediated mutation 1, Stephen P Jackson
MGI ID: MGI:5822837
Synonyms: Paxx-, Paxxem1Gb
Gene: Paxx  Location: Chr2:25345153-25351106 bp, - strand  Genetic Position: Chr2, 17.27 cM
Alliance: Paxxem1Spj page
Small body size, absence of thymus, and small spleen in Paxxem1Spj/Paxxem1Spj Nhej1tm1Fwa/Nhej1tm1Fwa mice

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6NTac
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation is a 1.6-kb deletion of the entire genomic region of the gene. Resulting homozygous mice showed complete absence of the encoded protein in tissues such as thymus, lung, and brain where it is normally highly expressed. (J:236776)
Generation of the Paxxem1Spj allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 37 assay results
In Structures Affected by this Mutation: 1 anatomical structure(s)
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 Paxx Mutation:  11 strains or lines available
References
Original:  J:236776 Balmus G, et al., Synthetic lethality between PAXX and XLF in mammalian development. Genes Dev. 2016 Oct 1;30(19):2152-2157
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