B6.129-Col13a1tm1Pih/Oulu

Status

Available to order

EMMA IDEM:10575
International strain nameB6.129-Col13a1tm1Pih/Oulu
Alternative nameCol13a1
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolCol13a1tm1Pih,
Gene/Transgene symbolCol13a1

Information from provider

ProviderTaina Pihlajaniemi
Provider affiliationFaculty of Biochemistry and Molecular medicine, University of Oulu
Genetic informationExon 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 informationHomozygous:
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 historyMice 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 fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreUniversity of Oulu, Oulu, Finland
Animals used for archivingheterozygous C57BL/6JOlaHsd, heterozygous C57BL/6JOlaHsd
Stage of embryos4/8-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

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

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

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.


Search
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).