IMPC phenotypes (gene matching)
B6(C)-Npr3Kylb/H
| Status | Available to order |
| EMMA ID | EM:12748 |
| Citation information | RRID:IMSR_EM:12748 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 | B6(C)-Npr3Kylb/H |
| Alternative name | Nessie |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Npr3Kylb |
| Gene/Transgene symbol | Npr3 |
Information from provider
| Provider | Chris Esapa |
| Provider affiliation | Mammalian Genetics Unit, Medical Research Council |
| Genetic information | This strain is an ENU-induced mouse model for autosomal recessive kyphosis due to a novel Tyr209Asn mutation in Npr3. Experiments in cultured cells indicate that the mutant protein is retained in the endoplasmic reticulum. |
| Phenotypic information | Homozygous:Homozygotes have a small and elongated body, kyphosis and long bones.Heterozygous:No phenotype in heterozygotes. This is a recessive mutation. |
| Breeding history | This mutation arose in a BALB/cByJ male treated with ENU. Subsequently backcrossed onto C57BL/6J for 2 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Animals used for archiving | heterozygous C57BL/6J males |
| Breeding at archiving centre | This mouse line was identified in an ENU mutagenised BALB/cByJ male. Mutant mice were then backcrossed twice to C57BL/6J. |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Familial focal epilepsy with variable foci / Orphanet_98820
Literature references
- Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.;Esapa Christopher T, Piret Sian E, Nesbit M Andrew, Loh Nellie Y, Thomas Gethin, Croucher Peter I, Brown Matthew A, Brown Steve D M, Cox Roger D, Thakker Rajesh V, ;2016;PloS one;11;e0167916; 27959934