IMPC phenotypes (gene matching)
B6(C)-Npr3Kylb/H
| Status | Available to order |
| EMMA ID | EM:12748 |
| 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 |
| 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