CD1.Cg-Fgfr2tm4Lni/H

Status

Available to order

EMMA IDEM:02488
International strain nameCD1.Cg-Fgfr2tm4Lni/H
Alternative nameCD1-FGFR2c342y
Strain typeTargeted Mutant Strains : Point mutation
Allele/Transgene symbolFgfr2tm4Lni,
Gene/Transgene symbolFgfr2

Information from provider

ProviderChristian Babbs
Provider affiliationWeatherall Institute of Molecular Medicine, University of Oxford
Additional ownerProf. V. P. Eswarakumar, Dept. of Pharmacology, Yale School of Medicine, New Haven, CT, USA
Genetic informationThis strain has an amino acid substitution of a cysteine for a tyrosine at position 342 of Fgfr2c. This change renders the receptor constitutively active and replicates the mutation underlying Crouzon syndrome in humans.
Phenotypic informationFgfr2c(C342Y/+) heterozygous mice are viable and fertile with shortened face, protruding eyes, and show premature fusion of cranial sutures. Homozygous mutants display multiple joint fusions, cleft palate, and trachea and lung defects, and die shortly after birth.
Breeding historyBackcrossed 11 generations to a CD1 background.
References
  • A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.;Eswarakumar Veraragavan P, Horowitz Mark C, Locklin Rachel, Morriss-Kay Gillian M, Lonai Peter, ;2004;Proceedings of the National Academy of Sciences of the United States of America;101;12555-60; 15316116
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archivingheterozygous CD-1 outbred stock (syn.: outbr. CD-1 or CD1, Swiss CD-1 or CD1, ICR(CD-1), etc.)
Breeding at archiving centreMales were archived by sperm freezing on arrival. No breeding was performed at the archiving centre.

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • premature cranial suture closure / MGI
  • short maxilla / MGI
  • abnormal sphenoid bone morphology / MGI
  • abnormal frontal bone morphology / MGI
  • malocclusion / MGI
  • domed cranium / MGI
  • ocular hypertelorism / MGI
  • exophthalmos / MGI
  • increased osteoblast cell number / MGI
  • decreased molar number / MGI
  • short face / MGI
  • premature coronal suture closure / MGI
  • abnormal nasal bone morphology / MGI
  • abnormal lung morphology / MGI
  • eyelids open at birth / MGI
  • respiratory failure / MGI
  • abnormal axial skeleton morphology / MGI
  • abnormal sternebra morphology / MGI
  • fused tracheal cartilage rings / MGI
  • vertebral fusion / MGI
  • abnormal osteoblast physiology / MGI
  • abnormal palatine bone morphology / MGI
  • abnormal bone ossification / MGI
  • abnormal appendicular skeleton morphology / MGI
  • abnormal palatal shelf fusion at midline / MGI
  • cleft secondary palate / MGI
  • abnormal basicranium morphology / MGI
  • neonatal lethality, complete penetrance / MGI
  • short basicranium / MGI

Literature references

  • A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.;Eswarakumar Veraragavan P, Horowitz Mark C, Locklin Rachel, Morriss-Kay Gillian M, Lonai Peter, ;2004;Proceedings of the National Academy of Sciences of the United States of America;101;12555-60; 15316116

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

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

Material Transfer Agreement (MTA)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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