C57BL/6-Fbn2tm1Pg/Orl

Status

Available to order

EMMA IDEM:12385
Citation informationRRID:IMSR_EM:12385 

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 nameC57BL/6-Fbn2tm1Pg/Orl
Alternative nameB6.Fbn2 tm1PG/N
Strain typeTargeted Mutant Strains : Point mutation
Allele/Transgene symbolFbn2tm1Pg
Gene/Transgene symbolFbn2

Information from provider

ProviderSilke Peeters
Provider affiliationDepartment of medical genetics, University of Antwerp
Genetic informationFibrillin 2 knock-in mouse model for the human F1670C mutation. Mouse Phe1663 (F1663) corresponds to the human Phe1670, and it is encoded on mouse exon 39. Detailed information about the generation of this mouse strain can be downloaded together with the genotyping protocol.
Phenotypic informationHomozygous:
Homozygous mice are not viable.

Heterozygous:
Heterozygous mice have no major phenotypic features. A pilot study to measure the length of the femur revealed no differences in length between wild-type and heterozygous mice. Also no differences in digit length were measured.
Breeding historyAbout 9 generations of backcrossing/sibling mating on C57BL/6N background.
ReferencesNone available
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France
Animals used for archivingheterozygous C57BL/6N males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • abnormal pelvic girdle bone morphology / IMPC
  • enlarged heart / IMPC
  • abnormal autopod morphology / IMPC
  • abnormal mandible morphology / IMPC
  • abnormal brain morphology / IMPC
  • abnormal fibula morphology / IMPC
  • abnormal liver morphology / IMPC
  • abnormal humerus morphology / IMPC
  • abnormal nail morphology / IMPC
  • abnormal heart morphology / IMPC
  • abnormal tibia morphology / IMPC
  • abnormal kidney morphology / IMPC
  • corneal vascularization / IMPC
  • prolonged ST segment / IMPC
  • syndactyly / IMPC
  • abnormal eye morphology / IMPC
  • abnormal rib morphology / IMPC
  • abnormal digit morphology / IMPC
  • abnormal femur morphology / IMPC
  • decreased grip strength / IMPC
  • abnormal cranium morphology / IMPC
  • corneal opacity / IMPC
  • abnormal zygomatic bone morphology / IMPC
  • abnormal tail morphology / IMPC
  • abnormal vertebral arch morphology / IMPC
  • decreased circulating amylase level / IMPC
  • abnormal ulna morphology / IMPC
  • increased circulating alkaline phosphatase level / IMPC
  • abnormal gait / IMPC
  • abnormal clavicle morphology / IMPC
  • abnormal optic disk morphology / IMPC
  • decreased body length / IMPC
  • thrombocytopenia / IMPC
  • increased bone mineral content / IMPC
  • decreased anxiety-related response / IMPC
  • abnormal skin morphology / IMPC
  • abnormal radius morphology / IMPC
  • abnormal bone structure / IMPC
  • abnormal joint morphology / IMPC
  • vertebral fusion / IMPC
  • abnormal heart weight / IMPC

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 sperm. 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

Right strain for your research?

The information provided on this page is, to the best of EMMA’s knowledge, based on data supplied by the original provider. End users are responsible for reviewing these details and for validating the strain and its suitability for their experimental use.​
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