MGI phenotypes (allele matching)
C;129P2-Pomt1tm1Jec/Cnbc
| Status | Available to order |
| EMMA ID | EM:05103 |
| Citation information | RRID:IMSR_EM:05103 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 | C;129P2-Pomt1tm1Jec/Cnbc |
| Alternative name | Pomt1tm1Jec |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Pomt1tm1Jec |
| Gene/Transgene symbol | Pomt1 |
Information from provider
| Provider | Jesús Cruces |
| Provider affiliation | Bioquímica, Universidad Autónoma de Madrid |
| Genetic information | Exon 2, containing the start codon, was replaced by a neomycin resistance gene via homologous recombination. |
| Phenotypic information | Embryonic lethal at E7.5 |
| Breeding history | Generated with E14.1 ES cells and maintained on BALB/c. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous BALB/c males, wild-type BALB/c females |
| Stage of embryos | 8-cell |
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
MGI phenotypes (gene matching)
Literature references
- POMT1 is essential for protein O-mannosylation in mammals.;Lommel Mark, Willer Tobias, Cruces Jesús, Strahl Sabine, ;2010;Methods in enzymology;479;323-42; 20816174