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Allele : Exd2<em1Rspi> exonuclease 3'-5' domain containing 2; endonuclease-mediated mutation 1, Ramesh S Pillai

Primary Identifier  MGI:7738844 Allele Type  Endonuclease-mediated
Attribute String  Null/knockout Gene  Exd2
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Exd2<delta>,
  • Exd2<delta>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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3 Publication categories

Trail: Allele