129S6.129P2(Cg)-Fgfr3tm1.1Aomw/AomwH

Status

Available to order

EMMA IDEM:02541
International strain name129S6.129P2(Cg)-Fgfr3tm1.1Aomw/AomwH
Alternative name129/SvEv-Fgfr3 P244R
Strain typeTargeted Mutant Strains : Knock-in
Allele/Transgene symbolFgfr3tm1.1Aomw,
Gene/Transgene symbolFgfr3

Information from provider

ProviderSteve Twigg
Provider affiliationWeatherall Institute of Molecular Medicine, John Radcliffe Hospital
Genetic informationFgfr3 731C>G knock-in (Pro244Arg)
Phenotypic informationHearing loss with sparing at high frequencies. Incompletely penetrant skull abnormalities.
Breeding historyBackcrossed over 10 generations onto 129S6/SvEv.
References
  • Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.;Twigg Stephen R F, Healy Chris, Babbs Christian, Sharpe Jacqueline A, Wood William G, Sharpe Paul T, Morriss-Kay Gillian M, Wilkie Andrew O M, ;2009;Developmental dynamics : an official publication of the American Association of Anatomists;238;331-42; 19086028
  • Hearing loss in a mouse model of Muenke syndrome.;Mansour Suzanne L, Twigg Stephen R F, Freeland Rowena M, Wall Steven A, Li Chaoying, Wilkie Andrew O M, ;2009;Human molecular genetics;18;43-50; 18818193
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archivingheterozygous 0
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)
  • abnormal craniofacial morphology / MGI
  • craniofacial phenotype / MGI
  • impaired hearing / MGI
  • increased or absent threshold for auditory brainstem response / MGI
  • abnormal neurocranium morphology / MGI
  • malocclusion / MGI
  • abnormal cranium morphology / MGI
  • abnormal snout morphology / MGI
  • short snout / MGI
  • synostosis / MGI
  • abnormal premaxilla morphology / MGI
  • abnormal cranial suture morphology / MGI
  • abnormal coronal suture morphology / MGI
  • abnormal lambdoid suture morphology / MGI
  • enlarged interparietal bone / MGI
  • abnormal occipital bone morphology / MGI
  • decreased cranium height / MGI
  • abnormal foramen magnum morphology / MGI
  • thin frontal bone / MGI
  • thin parietal bone / MGI
  • abnormal organ of Corti morphology / MGI
  • delayed bone ossification / MGI
  • decreased bone mineral density / MGI
  • decreased compact bone thickness / MGI
  • domed cranium / MGI
  • decreased body size / MGI
  • abnormal pillar cell morphology / MGI
  • abnormal sagittal suture morphology / MGI
  • abnormal Deiters cell morphology / MGI
  • small interparietal bone / MGI
  • abnormal cochlear outer hair cell morphology / MGI
  • small occipital bone / MGI
  • abnormal palatine bone horizontal plate morphology / MGI
  • abnormal zygomatic bone morphology / MGI
  • abnormal patterning of the organ of Corti / MGI
  • abnormal organ of Corti supporting cell differentiation / MGI
  • abnormal maxillary zygomatic process morphology / MGI
  • increased cranium width / MGI
  • ocular hypertelorism / MGI
  • short nasal bone / MGI
  • maxillary retrognathia / MGI

Literature references

  • Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.;Twigg Stephen R F, Healy Chris, Babbs Christian, Sharpe Jacqueline A, Wood William G, Sharpe Paul T, Morriss-Kay Gillian M, Wilkie Andrew O M, ;2009;Developmental dynamics : an official publication of the American Association of Anatomists;238;331-42; 19086028
  • Hearing loss in a mouse model of Muenke syndrome.;Mansour Suzanne L, Twigg Stephen R F, Freeland Rowena M, Wall Steven A, Li Chaoying, Wilkie Andrew O M, ;2009;Human molecular genetics;18;43-50; 18818193

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*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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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