Dis3l2^em3Jtm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dis3l2^em3Jtm
• Name: DIS3 like 3'-5' exoribonuclease 2; endonuclease-mediated mutation 3, Joshua T Mendell
• MGI ID: MGI:6286052
• Synonyms: Dis3l2^delta10
• Gene: Dis3l2 Location: Chr1:86631530-86977817 bp, + strand Genetic Position: Chr1, 43.99 cM
• Alliance: Dis3l2^em3Jtm page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/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)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	6 anatomical structure(s)

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: 58 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)