B6.129-Col13a1^tm1Pih/Oulu

Status	Available to order
EMMA ID	EM:10575
International strain name	B6.129-Col13a1^tm1Pih/Oulu
Alternative name	Col13a1
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Col13a1^tm1Pih
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, which encodes 96 residues that make up the cytosolic and transmembrane domains as well as a portion of the ectodomain, was deleted by in vitro cre mediated recombination. An aberrant transcript resulting from a cryptic splice site within intron 1 was detected by RT-PCR. Sequence analysis identified two start codons in intron 1 that are in frame with exon 2. Translation of the aberrant transcript is expected to produce a protein in which the 96 endogenous amino acids are replaced with either 65 or 11 residues encoded by intronic sequence. The novel amino terminal is expected to lack the transmembrane and signal peptide characteristics of the endogenous protein.
Phenotypic information	Homozygous: behavior/neurological: impaired exercise endurance cellular: abnormal cell adhesion, abnormal basement membrane morphology homeostasis/metabolism: impaired exercise endurance, increased susceptibility to injury immune system: myositis muscle: myositis, abnormal Z lines, abnormal sarcolemma morphology, abnormal skeletal muscle morphology (abnormal skeletal muscle fiber morphology, decreased skeletal muscle fiber diameter), muscle degeneration, myopathy nervous system: abnormal endplate potential Heterozygous: none
Breeding history	Mice were first bred with 129/Sv mice for 7 generations and thereafter with C57BL/6JOlaHsd mice for 11 generations.
References	Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy.;Kvist A P, Latvanlehto A, Sund M, Eklund L, Väisänen T, Hägg P, Sormunen R, Komulainen J, Fässler R, Pihlajaniemi T, ;2001;The American journal of pathology;159;1581-92; 11583983
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	heterozygous C57BL/6JOlaHsd, heterozygous C57BL/6JOlaHsd
Stage of embryos	4/8-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 (allele matching)

muscle degeneration / MGI
myopathy / MGI
abnormal skeletal muscle morphology / MGI
abnormal skeletal muscle fiber morphology / MGI
abnormal cell adhesion / MGI
abnormal Z lines / MGI
abnormal sarcolemma morphology / MGI
abnormal basement membrane morphology / MGI
myositis / MGI
increased susceptibility to injury / MGI
decreased skeletal muscle fiber diameter / MGI
impaired exercise endurance / MGI
abnormal endplate potential / MGI

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

Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy.;Kvist A P, Latvanlehto A, Sund M, Eklund L, Väisänen T, Hägg P, Sormunen R, Komulainen J, Fässler R, Pihlajaniemi T, ;2001;The American journal of pathology;159;1581-92; 11583983

Information on how we integrate external resources can be found here

Order

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^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

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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B6.129-Col13a1tm1Pih/Oulu