FVB.129S6(B6)-Col13a1^tm4.1Pih/Oulu

Status	Available to order
EMMA ID	EM:09913
Citation information	RRID:IMSR_EM:09913 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)-Col13a1^tm4.1Pih/Oulu
Alternative name	FVB.129S6-Col13a1/Oulu
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Col13a1^tm4.1Pih
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. Neomycin-resistance cassette was placed about 150 nt upstream from the exon 2. Cassette was later removed by crossbreeding with a constitutive cre-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 stability Heterozygous: 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 mice (maintained in-house; backcrossed to C57BL/6JOlaHsd), to exclude loxP-flanked neomycin-resistance cassette. Mice were backcrossed with C57BL/6JOlaHsd mice for 10 more generation after which they were backcrossed with FVB mice for 7 generations.
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
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 FVB males

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

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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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FVB.129S6(B6)-Col13a1tm4.1Pih/Oulu