IMPC phenotypes (gene matching)
B6;129-Exd1tm1Embrp/Cnrm
| Status | Available to order |
| EMMA ID | EM:08303 |
| International strain name | B6;129-Exd1tm1Embrp/Cnrm |
| Alternative name | Exd1 ko |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Exd1tm1Embrp |
| Gene/Transgene symbol | Exd1 |
Information from provider
| Provider | Ramesh PILLAI |
| Provider affiliation | Grenoble Outstation, European Molecular Biology Laboratory |
| Genetic information | The Exd1 gene locus is on chromosome 2 of the mouse genome and is composed of 13 exons, with the translated sequence being provided by exons 3-13. The N-terminal Lsm domain is contributed by exons 3-5, while the nuclease domain is encoded by exons 8-12. The Exd1 locus in the hybrid C57BL/6 x 129/Sv embryonic stem (ES) cell line A9 was disrupted using a targeting construct that inserted an in-frame triple stop codon cassette immediately downstream of the first codon in the exon 8 (ATG TAA A TAG A TGA). This also inserts the PGK-Keo (Kanamycin-neomycin)-polyA cassette downstream of the stop codons. In the targeted allele, the translation is prematurely terminated at the beginning of exon8, probably leading to nonsense-mediated decay (NMD) of the mutant transcript. In addition, the presence of a strong polyA site from the selection cassette will also truncate the transcript (deleting everything downstream of exon 8). |
| Phenotypic information | Homozygous:This protein is involved in the biogenesis of germline small RNAs called piRNAs. This link to the piRNA pathway is currently only biochemical. We hope that this mouse mutant will provide us with the genetic proof of this involvement. Like all other piRNA pathway mutants, we expect homozygous animals to be 1) viable, 2) males to be infertile, while females are fertile. We should know the phenotype sometime in August and will be informed to EMMA. The associated publication will be submitted as soon as we know the phenotype (Aug-Oct, 2014).Heterozygous:Heterozygous: viable, fertile. |
| Breeding history | Targeted ES male mice were crossed with wildtype C57BL/6 females. The resulting progeny were genotyped and found to carry the mutation in one of the alleles (Exd1+/-). Currently we have carried out two such backcrosses. |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Literature references
- Tudor domain containing 12 (TDRD12) is essential for secondary PIWI interacting RNA biogenesis in mice.;Pandey Radha Raman, Tokuzawa Yoshimi, Yang Zhaolin, Hayashi Eri, Ichisaka Tomoko, Kajita Shimpei, Asano Yuka, Kunieda Tetsuo, Sachidanandam Ravi, Chuma Shinichiro, Yamanaka Shinya, Pillai Ramesh S, ;2013;Proceedings of the National Academy of Sciences of the United States of America;110;16492-7; 24067652
- PIWI Slicing and EXD1 Drive Biogenesis of Nuclear piRNAs from Cytosolic Targets of the Mouse piRNA Pathway.;Yang Zhaolin, Chen Kuan-Ming, Pandey Radha Raman, Homolka David, Reuter Michael, Janeiro Bruno Kotska Rodino, Sachidanandam Ravi, Fauvarque Marie-Odile, McCarthy Andrew A, Pillai Ramesh S, ;2016;Molecular cell;61;138-52; 26669262
- Exonuclease Domain-Containing 1 Enhances MIWI2 piRNA Biogenesis via Its Interaction with TDRD12.;Pandey Radha Raman, Homolka David, Olotu Opeyemi, Sachidanandam Ravi, Kotaja Noora, Pillai Ramesh S, ;2018;Cell reports;24;3423-3432.e4; 30257204