MGI phenotypes (gene matching)
B6J.B6N(Cg)-Pomt1tm1c(EUCOMM)Hmgu/Cnbc
| Status | Available to order |
| EMMA ID | EM:12210 |
| Citation information | RRID:IMSR_EM:12210 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 | B6J.B6N(Cg)-Pomt1tm1c(EUCOMM)Hmgu/Cnbc |
| Alternative name | Pomt1tm1c(EUCOMM)/Jec |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Pomt1tm1c(EUCOMM)Hmgu |
| Gene/Transgene symbol | Pomt1 |
Information from provider
| Provider | Jesús Cruces |
| Provider affiliation | Bioquímica, Universidad Autónoma de Madrid |
| Genetic information | Floxed Pomt1 allele for exons 3 and 4, following EUCOMM strategy. |
| Phenotypic information | Homozygous:No phenotypic expressionHeterozygous:No phenotypic description |
| Breeding history | Chimera were crossed with CD1 to obtain F1. F1 were crossed with flippase transgenic mice. Mice obtained were crossed more than 10 times with C57BL/6J mice. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Walker-Warburg syndrome / Orphanet_899
- Congenital muscular dystrophy with intellectual disability / Orphanet_370968
- Congenital muscular dystrophy with cerebellar involvement / Orphanet_370959
- POMT1-related limb-girdle muscular dystrophy R11 / Orphanet_86812
- Muscle-eye-brain disease / Orphanet_588
- Congenital muscular dystrophy without intellectual disability / Orphanet_370980
Literature references
- Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.;Rubio-Fernández Marcos, Uribe Mary Luz, Vicente-Tejedor Javier, Germain Francisco, Susín-Lara Cristina, Quereda Cristina, Montoliu Lluis, de la Villa Pedro, Martín-Nieto José, Cruces Jesús, ;2018;Scientific reports;8;8543; 29867208