IMPC phenotypes (gene matching)
129/SvEv-Gnasas1tm1Jop/H
| Status | Available to order |
| EMMA ID | EM:16007 |
| Citation information | RRID:IMSR_EM:16007 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 | 129/SvEv-Gnasas1tm1Jop/H |
| Alternative name | 129/SvEv-Gnasas1 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gnasastm1Jop |
| Gene/Transgene symbol | Gnasas1 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | Male chimaeric mouse has targeted deletion of the Nespas promoter, exon 1 and 631 bp of intronic sequence. This region encompasses part of the Nespas DMR (differentially methylated region). The Gnas minimal promoter region remained intact. |
| Phenotypic information | Homozygous:Heterozygous:Heterozygotes with paternal inheritance of deletion die within 1-2 days of birth. Studies showed that they showed no expression of Nespas. However unlike a paternally inherited wild-type allele, Nesp transcription was evident. Furthermore, the expression of all transcripts in the cluster and methylation of two DMRs were affected. Heterozygotes with maternal inheritance of deletion appear normal. |
| Breeding history | Generated on 129S/SvEv |
| References |
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| Homozygous fertile | no |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Literature references
- Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster.;Williamson Christine M, Turner Martin D, Ball Simon T, Nottingham Wade T, Glenister Peter, Fray Martin, Tymowska-Lalanne Zuzanna, Plagge Antonius, Powles-Glover Nicola, Kelsey Gavin, Maconochie Mark, Peters Jo, ;2006;Nature genetics;38;350-5; 16462745