MGI phenotypes (gene matching)
B6J.B6N(Cg)-Pomt1tm1c(EUCOMM)Hmgu/Cnbc
| Status | Available to order |
| EMMA ID | EM:12210 |
| 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 |
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