MGI phenotypes (allele matching)
B6.129P2(C)-Pomt1tm1Jec/Cnbc
| Status | Available to order |
| EMMA ID | EM:07407 |
| Citation information | RRID:IMSR_EM:07407 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 | B6.129P2(C)-Pomt1tm1Jec/Cnbc |
| Alternative name | Pomt1tm1Jec |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Pomt1tm1Jec |
| Gene/Transgene symbol | Pomt1 |
Information from provider
| Provider | Jesus Cruces |
| Provider affiliation | Bioquimica, Universidad Autonoma 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 (homozygous mutant). |
| Breeding history | Generated with E14.1 ES cells and maintained on BALB/c. Currently, maintained on C57BL/6J in fifth and sixth generations. |
| 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 C57BL/6J males, wild-type C57BL/6J females |
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
- Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.;Willer Tobias, Prados Belén, Falcón-Pérez Juan Manuel, Renner-Müller Ingrid, Przemeck Gerhard K H, Lommel Mark, Coloma Antonio, Valero M Carmen, de Angelis Martin Hrabé, Tanner Widmar, Wolf Eckhard, Strahl Sabine, Cruces Jesús, ;2004;Proceedings of the National Academy of Sciences of the United States of America;101;14126-31; 15383666