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Dis3l2em3Jtm
Endonuclease-mediated Allele Detail
Summary
Symbol: Dis3l2em3Jtm
Name: DIS3 like 3'-5' exoribonuclease 2; endonuclease-mediated mutation 3, Joshua T Mendell
MGI ID: MGI:6286052
Synonyms: Dis3l2delta10
Gene: Dis3l2  Location: Chr1:86631530-86977817 bp, + strand  Genetic Position: Chr1, 43.99 cM
Alliance: Dis3l2em3Jtm page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology deleted exon 10, mimicking the deletion of the human exon 9, the most common mutation observed in Perlman syndrome patients. This deletion is predicted to preserve the reading frame and remove only 1% of the residues in the catalytic RNB domain. Western blot analysis indicates that protein levels are dramatically reduced in the kidneys at E18.5. (J:272435)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dis3l2 Mutation:  43 strains or lines available
References
Original:  J:272435 Hunter RW, et al., Loss of Dis3l2 partially phenocopies Perlman syndrome in mice and results in up-regulation of Igf2 in nephron progenitor cells. Genes Dev. 2018 Jul 1;32(13-14):903-908
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
01/31/2023
MGI 6.22
The Jackson Laboratory