- 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
129S6.129P2(Cg)-Fgfr3tm1.1Aomw/AomwH
Status | Available to order |
EMMA ID | EM:02541 |
International strain name | 129S6.129P2(Cg)-Fgfr3tm1.1Aomw/AomwH |
Alternative name | 129/SvEv-Fgfr3 P244R |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Fgfr3tm1.1Aomw, |
Gene/Transgene symbol | Fgfr3 |
Information from provider
Provider | Steve Twigg |
Provider affiliation | Weatherall Institute of Molecular Medicine, John Radcliffe Hospital |
Genetic information | Fgfr3 731C>G knock-in (Pro244Arg) |
Phenotypic information | Hearing loss with sparing at high frequencies. Incompletely penetrant skull abnormalities. |
Breeding history | Backcrossed over 10 generations onto 129S6/SvEv. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous 0 |
Breeding at archiving centre | Males 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
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome / Orphanet_85164
- Hypochondroplasia / Orphanet_429
- Achondroplasia / Orphanet_15
- Crouzon syndrome-acanthosis nigricans syndrome / Orphanet_93262
- Thanatophoric dysplasia type 2 / Orphanet_93274
- Muenke syndrome / Orphanet_53271
- Isolated brachycephaly / Orphanet_35099
- Lacrimoauriculodentodigital syndrome / Orphanet_2363
- Thanatophoric dysplasia type 1 / Orphanet_1860
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome / Orphanet_85165
- Isolated plagiocephaly / Orphanet_35098
MGI phenotypes (allele matching)
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
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