Exd2^em1Rspi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Exd2^em1Rspi
• Name: exonuclease 3'-5' domain containing 2; endonuclease-mediated mutation 1, Ramesh S Pillai
• MGI ID: MGI:7738844
• Synonyms: Exd2^delta
• Gene: Exd2 Location: Chr12:80509869-80544909 bp, + strand Genetic Position: Chr12, 36.73 cM
• Alliance: Exd2^em1Rspi page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 genome editing technology was used to generate a deletion of the 3 end of exon 2 and part of the downstream intron. The deleted region covers the DCE motif known to be critical for the 3 --> 5 exonuclease activity on both DNA and RNA. Sanger sequencing of small testicular biopsies demonstrated a deletion of a 14-nucleotide region at the 3 end of exon 2. Analysis of RNA-seq libraries showed that the deletion results in aberrant splicing of exon 2 resulting in absence of 3 end of exon 2 or whole exon 2 skipping. The most common splicing pattern results in an in-frame deletion of 33 amino acids, including the DCE motif. (J:345489)

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 Exd2 Mutation: 27 strains or lines available

References

• Original: J:345489 Olotu O, et al., Intermitochondrial cement (IMC) harbors piRNA biogenesis machinery and exonuclease domain-containing proteins EXD1 and EXD2 in mouse spermatocytes. Andrology. 2023 May;11(4):710-723
• All: 1 reference(s)