B6JOlaHsd.129S6-Col13a1tm4.1Pih/Oulu
| Status | Available to order |
| EMMA ID | EM:09323 |
| International strain name | B6JOlaHsd.129S6-Col13a1tm4.1Pih/Oulu |
| Alternative name | C57BL/6JOlaHsd-Col13a1 |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Col13a1tm4.1Pih, |
| Gene/Transgene symbol | Col13a1 |
Information from provider
| Provider | Taina Pihlajaniemi |
| Provider affiliation | Faculty of Biochemistry and Molecular medicine, University of Oulu |
| Genetic information | Furin/Furin type proprotein convertase recognition sequence RRRR in the exon 2 of Col13a1 was mutated to ATAA. A neomycin-resistance cassette was placed about 150 nt upstream from the exon 2. The cassette was then removed by crossbreeding with a constitutive cre recombinase-expressing line to leave behind one loxP site and some cloning sequences at the end of intron 1. |
| Phenotypic information | Homozygous:Altered neuromuscular junction maturation, function and stabilityHeterozygous:None |
| Breeding history | ES cell line used was W4 (129S6/SvEvTac). Only one correctly targeted clone was identified. Mice were backcrossed for 6 generations to C57BL/6JOlaHsd after which they were crossed with Tg(CAG-cre)13Miya (maintained in-house; C57BL/6JOlaHsd-backcrossed) mice to remove the loxP-flanked neomycin-resistance cassette. |
| References |
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| 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
Orphanet associated rare diseases, based on orthologous gene matching
- Postsynaptic congenital myasthenic syndromes / Orphanet_98913
- Presynaptic congenital myasthenic syndromes / Orphanet_98914
Literature references
- 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