IMPC phenotypes (gene matching)
C57BL/6Ola-Nmnat1tm1Cole
| Status | Available to order |
| EMMA ID | EM:15683 |
| Citation information | RRID:IMSR_EM:15683 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 | C57BL/6Ola-Nmnat1tm1Cole |
| Alternative name | C57BL/6Ola-Nmnat1 |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Nmnat1tm1Cole |
| Gene/Transgene symbol | Nmnat1 |
Information from provider
| Provider | Michael Coleman |
| Provider affiliation | The Babraham Institute |
| Genetic information | Nmnat1tm1Cole have floxed exons 2 and 3 in the gene Nmnat1. The mice were generated to test the hypothesis that deletion of Nmnat1 might induce spontaneous axon degeneration or accelerate injury-induced Wallerian degeneration. The reason for making this hypothesis is that slow Wallerian degeneration (WldS) mice uniquely express a fusion protein of the N-terminal 70 amino acids of ubiquitination factor Ube4b and full length Nmnat1 (Mack et al., Nat. Neurosci. 4: 1199-1206). If overexpressing Nmnat1 in this way contributes to delaying axon degeneration, then reducing its expression might accelerate axon degeneration, giving us important clues about the mechanism of action of WldS. NAD is also implicated in regulation of gene expression via NAD-dependent histone deacetylases (sirtuins) and in regulation of apoptosis via polyADP ribose polymerase (PARP), so these mice may be useful for such studies. |
| Phenotypic information | Homozygous:No reported phenotypeHeterozygous:No reported phenotype |
| Breeding history | This line has been produced using C57BL/6JOlaHsd mice carrying a deletion in the alpha-synuclein allele. The mutation is congenic on this background. |
| References | None available |
| Homozygous fertile | not known |
| 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
Orphanet associated rare diseases, based on orthologous gene matching
- Cone rod dystrophy / Orphanet_1872
- Leber congenital amaurosis / Orphanet_65
MGI phenotypes (gene matching)
- abnormal retina morphology / MGI
- retinal degeneration / MGI
- abnormal retinal vasculature morphology / MGI
- no phenotypic analysis / MGI
- nervous system phenotype / MGI
- abnormal retinal inner nuclear layer morphology / MGI
- abnormal rod electrophysiology / MGI
- abnormal cone electrophysiology / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- reproductive system phenotype / MGI
- retinal pigment epithelium atrophy / MGI
- impaired pupillary reflex / MGI
- retinal photoreceptor degeneration / MGI
- thin retinal inner nuclear layer / MGI
- disorganized retinal inner nuclear layer / MGI
- thin retinal outer nuclear layer / MGI
- retinal outer nuclear layer degeneration / MGI
- photoreceptor inner segment degeneration / MGI
- photoreceptor outer segment degeneration / MGI
- mortality/aging / MGI
- prenatal lethality, complete penetrance / MGI
- decreased total retina thickness / MGI
- decreased a wave amplitude / MGI
- decreased b wave amplitude / MGI