MGI phenotypes (allele matching)
- abnormal endplate potential / MGI
FVB.129S6(B6)-Col13a1tm2Pih/Oulu
| Status | Available to order |
| EMMA ID | EM:10425 |
| Citation information | RRID:IMSR_EM:10425 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 | FVB.129S6(B6)-Col13a1tm2Pih/Oulu |
| Alternative name | FVB.129-Col13a1 |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Col13a1tm2Pih |
| Gene/Transgene symbol | Col13a1 |
Information from provider
| Provider | Taina Pihlajaniemi |
| Provider affiliation | Faculty of Biochemistry and Molecular medicine, University of Oulu |
| Genetic information | Exon 2 sequence from the furin consensus through 1.2 kb of the adjacent intronic sequence were replaced with a lacZ gene and neo cassette. |
| Phenotypic information | Homozygous:Nervous system - abnormal endplate potential.Heterozygous:None |
| Breeding history | ES cell line used was W4. Mice were backcrossed with C57BL/6JOlaHsd mice for 7 generations and thereafter with FVB mice for 17 generations. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
| Animals used for archiving | heterozygous males, wild-type females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Postsynaptic congenital myasthenic syndromes / Orphanet_98913
- Presynaptic congenital myasthenic syndromes / Orphanet_98914
MGI phenotypes (gene matching)
- tremors / MGI
- muscle degeneration / MGI
- myopathy / MGI
- abnormal skeletal muscle morphology / MGI
- abnormal neuromuscular synapse morphology / MGI
- postnatal growth retardation / MGI
- abnormal endplate potential / MGI
- abnormal skeletal muscle fiber morphology / MGI
- abnormal cell adhesion / MGI
- abnormal Z line morphology / MGI
- abnormal sarcolemma morphology / MGI
- abnormal basement membrane morphology / MGI
- myositis / MGI
- abnormal synaptic vesicle morphology / MGI
- abnormal miniature endplate potential / MGI
- abnormal synaptic acetylcholine release / MGI
- increased susceptibility to injury / MGI
- decreased skeletal muscle fiber diameter / MGI
- impaired exercise endurance / MGI
Literature references
- Muscle-derived collagen XIII regulates maturation of the skeletal neuromuscular junction.;Latvanlehto Anne, Fox Michael A, Sormunen Raija, Tu Hongmin, Oikarainen Tuomo, Koski Anu, Naumenko Nikolay, Shakirzyanova Anastasia, Kallio Mika, Ilves Mika, Giniatullin Rashid, Sanes Joshua R, Pihlajaniemi Taina, ;2010;The Journal of neuroscience : the official journal of the Society for Neuroscience;30;12230-41; 20844119