STOCK Del(7Ndn-Magel2)#Mus/Orl
| Status | Available to order |
| EMMA ID | EM:16049 |
| Citation information | RRID:IMSR_EM:16049 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Del(7Ndn-Magel2)#Mus/Orl |
| Alternative name | Del Ndn-Magel2 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Del(7Ndn-Magel2) |
| Gene/Transgene symbol | Del(7Ndn-Magel2) |
Information from provider
| Provider | Françoise MUSCATELLI |
| Provider affiliation | INSERMU1249, INMED |
| Genetic information | A 32 kb deletion that includes the mouse Necdin gene, the fragment between the mouse Necdin and Magel2 genes, the Magel2 promoter and half of Magel2 gene's coding region. A cre-loxP site-specific recombination strategy was used to mediate efficient in vivo trans-allelic recombination between a loxP site in the Necdin KO strain and a loxP site in the Magel2 KO strain, with a third mutant strain expressing Hprt1-cre recombinase. Three distinct strains were thus involved and their respective alleles were Ndntm1.1Mus (MGI:2653064), Magel2tm1.1Mus (MGI:4849506), Hprt1tm1(CAG-cre)Mnn (MGI:2181632). This approach could be used because both loxP sites are oriented in the same direction, while associated with either the Necdin KO allele or the Magel2 KO allele and located on a different chromosome 7. This allowed the creation of one new allele with deletion of the DNA region between the two loxP sites, including the Necdin gene and the 5’ coding region of Magel2 gene. An Hprt1-cre driver mouse strain was used, in which a strong CAG promoter is inserted into the X-linked Hprt1 locus, thus allowing a strong, constitutive expression of cre recombinase. See detailed decription in Barelle PY et al. JCI Insight, 2025, PMID:40048253. |
| Phenotypic information | Homozygous:Similar to heterozygous mice with the Ndn-Magel2 deletion on the paternal allele. In general, the harmful phenotype is not a problem because: 1) it occurs in specific environmental conditions with a maximum lethality of 50%: it appears that in a clean animal facility (without pathogens) there is no lethality but when the health status is not so clean there is up to 50% of death of mutant mice; 2) more importantly, it only occurs when the mutation is transmitted via the paternal Ndn-Magel2 deletion allele. Since Necdin and Magel2 are exclusively expressed from the wild-type paternal alleles, the maternal alleles are always silenced (imprinted genes). So, as far as the silent maternal deletion allele is transmitted, the phenotype is normal. Maternal transmission is the way to maintain this mouse line, also to avoid genetic drift.Heterozygous:This is a pertinent model to study Prader-Willi syndrome (PWS). A subset of Del Ndn-Magel2 mice showed neonatal lethality. Behaviourally, surviving mutant mice exhibited sensory delays during infancy and alterations in social exploration at adulthood. Del Ndn-Magel2 mice had a lower body weight before weaning, persisting after weaning in males only, with reduced fat mass and improved glucose tolerance, and altered puberty. Adult mutant mice displayed increased ventilation and a persistent increase in apnea following a hypercapnic challenge. Transcriptomics analyses revealed a dysregulation of key circadian genes and alterations of genes associated with axonal function similar to PWS patients. At neuroanatomical levels, Del Ndn-Magel2 mice had an impaired maturation of oxytocin neurons and a disrupted development of melanocortin circuits. |
| Breeding history | C57BL/6J background strain, only. In crossing. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6J males |
Literature references
- Investigation of a mouse model of Prader-Willi Syndrome with combined disruption of Necdin and Magel2.;Barelle Pierre-Yves, Sicardi Alicia, Schaller Fabienne, Buron Julie, Becquet Denis, Omnes Felix, Watrin Françoise, Alifrangis Marie-Sophie, Santos Catarina, Menuet Clément, François-Bellan Anne-Marie, Caron Emilie, Klucznik Jessica, Prevot Vincent, Bouret Sebastien G, Muscatelli Françoise, ;2025;JCI insight;10;; 40048253