MGI phenotypes (allele matching)
B6.129-Col13a1tm3.1Pih/Oulu
| Status | Available to order |
| EMMA ID | EM:09878 |
| International strain name | B6.129-Col13a1tm3.1Pih/Oulu |
| Alternative name | B6.129-Col13a1 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Col13a1tm3.1Pih |
| Gene/Transgene symbol | Col13a1 |
Information from provider
| Provider | Taina Pihlajaniemi |
| Provider affiliation | Faculty of Biochemistry and Molecular medicine, University of Oulu |
| Genetic information | Exon 1, the first protein-coding exon, and flanking sequences were replaced with a floxed neo cassette; cre-mediated recombination removed the neo cassette leaving behind one loxP site to replace exon 1 and flanking sequences. |
| Phenotypic information | Homozygous:Behavior/neurological: tremors. Growth/size/body: postnatal growth retardation. Nervous system: abnormal neuromuscular synapse morphology, abnormal synaptic vesicle morphology, abnormal endplate potential, abnormal miniature endplate potential, abnormal synaptic acetylcholine release.Heterozygous:Slightly abnormal neuromuscular synapse morphology. |
| Breeding history | ES cell line used was R1. Only one correctly targeted clone generated chimeras. Mice were crossed with Tg(CAG-cre)13Miya mice to exclude loxP-flanked neo cassette from the genome. Mice were backcrossed for 16 generations with C57BL/6JOlaHsd mice. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
| Animals used for archiving | homozygous C57BL/6JOlaHsd, wild-type C57BL/6JOlaHsd |
| Stage of embryos | 2-cell |
Disease and phenotype information
MGI allele-associated human disease models
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
- Collagen XIII secures pre- and postsynaptic integrity of the neuromuscular synapse.;Härönen Heli, Zainul Zarin, Tu Hongmin, Naumenko Nikolay, Sormunen Raija, Miinalainen Ilkka, Shakirzyanova Anastasia, Oikarainen Tuomo, Abdullin Azat, Martin Paula, Santoleri Sabrina, Koistinaho Jari, Silman Israel, Giniatullin Rashid, Fox Michael A, Heikkinen Anne, Pihlajaniemi Taina, ;2017;Human molecular genetics;26;2076-2090; 28369367