- abnormal malleus morphology / MGI
- abnormal cochlea morphology / MGI
- abnormal organ of Corti morphology / MGI
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- kyphoscoliosis / MGI
- abnormal neurocranium morphology / MGI
- abnormal parietal bone morphology / MGI
- malocclusion / MGI
- abnormal trabecular bone morphology / MGI
- abnormal long bone metaphysis morphology / MGI
- decreased compact bone thickness / MGI
- abnormal vertebrae morphology / MGI
- abnormal rib morphology / MGI
- kyphosis / MGI
- scoliosis / MGI
- abnormal long bone hypertrophic chondrocyte zone / MGI
- abnormal chondrocyte morphology / MGI
- decreased chondrocyte number / MGI
- abnormal craniofacial morphology / MGI
- megacephaly / MGI
- abnormal cranium morphology / MGI
- domed cranium / MGI
- increased cranium width / MGI
- abnormal snout morphology / MGI
- short snout / MGI
- abnormal maxilla morphology / MGI
- short limbs / MGI
- long limbs / MGI
- abnormal tibia morphology / MGI
- abnormal femur morphology / MGI
- synostosis / MGI
- kinked tail / MGI
- short tail / MGI
- decreased body length / MGI
- decreased body weight / MGI
- decreased body size / MGI
- ocular hypertelorism / MGI
- abnormal gait / MGI
- abnormal osteoclast physiology / MGI
- reduced female fertility / MGI
- male infertility / MGI
- abnormal breathing pattern / MGI
- respiratory distress / MGI
- deafness / MGI
- premature death / MGI
- abnormal postnatal growth/weight/body size / MGI
- abnormal tail morphology / MGI
- abnormal axial skeleton morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal fibula morphology / MGI
- disproportionate dwarf / MGI
- abnormal cochlear hair cell morphology / MGI
- long tail / MGI
- short tibia / MGI
- abnormal premaxilla morphology / MGI
- abnormal cranial suture morphology / MGI
- no phenotypic analysis / MGI
- abnormal thoracic vertebrae morphology / MGI
- abnormal cervical vertebrae morphology / MGI
- abnormal long bone epiphyseal plate morphology / MGI
- short femur / MGI
- absent tunnel of Corti / MGI
- abnormal pillar cell differentiation / MGI
- abnormal cochlear sensory epithelium morphology / MGI
- increased width of hypertrophic chondrocyte zone / MGI
- decreased width of hypertrophic chondrocyte zone / MGI
- premature endochondral bone ossification / MGI
- delayed endochondral bone ossification / MGI
- nervous system phenotype / MGI
- abnormal long bone epiphyseal plate proliferative zone / MGI
- abnormal long bone morphology / MGI
- abnormal bone structure / MGI
- abnormal pillar cell morphology / MGI
- abnormal coronal suture morphology / MGI
- abnormal lambdoid suture morphology / MGI
- abnormal sagittal suture morphology / MGI
- abnormal synchondrosis / MGI
- abnormal spine curvature / MGI
- abnormal long bone diaphysis morphology / MGI
- abnormal Deiters cell morphology / MGI
- absent pillar cells / MGI
- long femur / MGI
- long humerus / MGI
- short humerus / MGI
- long tibia / MGI
- bowed tibia / MGI
- short ulna / MGI
- bowed ulna / MGI
- long ulna / MGI
- bowed femur / MGI
- bowed fibula / MGI
- bowed humerus / MGI
- bowed radius / MGI
- short frontal bone / MGI
- small interparietal bone / MGI
- enlarged interparietal bone / MGI
- abnormal cochlear outer hair cell morphology / MGI
- increased cochlear outer hair cell number / MGI
- small occipital bone / MGI
- short nasal bone / MGI
- abnormal palatine bone horizontal plate morphology / MGI
- small vertebrae / MGI
- vertebral compression / MGI
- abnormal cochlear OHC efferent innervation pattern / MGI
- small caudal vertebrae / MGI
- enlarged vertebral body / MGI
- short ribs / MGI
- decreased length of long bones / MGI
- short vertebral column / MGI
- elongated vertebral body / MGI
- short vertebral body / MGI
- short lumbar vertebrae / MGI
- small thoracic cavity / MGI
- sensorineural hearing loss / MGI
- long incisors / MGI
- increased Deiters cell number / MGI
- abnormal behavior / MGI
- increased osteoclast cell number / MGI
- abnormal osteoblast physiology / MGI
- abnormal middle ear ossicle morphology / MGI
- abnormal incus morphology / MGI
- abnormal stapes morphology / MGI
- abnormal ulna morphology / MGI
- abnormal occipital bone morphology / MGI
- abnormal zygomatic bone morphology / MGI
- abnormal temporal bone morphology / MGI
- abnormal humerus morphology / MGI
- craniofacial phenotype / MGI
- skeleton phenotype / MGI
- abnormal skeleton morphology / MGI
- impaired lung alveolus development / MGI
- impaired hearing / MGI
- abnormal patterning of the organ of Corti / MGI
- abnormal vertebral epiphyseal plate morphology / MGI
- abnormal epiphyseal plate morphology / MGI
- decreased long bone epiphyseal plate size / MGI
- disorganized long bone epiphyseal plate / MGI
- increased long bone epiphyseal plate size / MGI
- abnormal hyaline cartilage morphology / MGI
- abnormal costal cartilage morphology / MGI
- increased diameter of long bones / MGI
- increased diameter of femur / MGI
- abnormal bone ossification / MGI
- abnormal endochondral bone ossification / MGI
- abnormal intramembranous bone ossification / MGI
- abnormal sternum ossification / MGI
- failure of sternum ossification / MGI
- abnormal organ of Corti supporting cell differentiation / MGI
- decreased cranium height / MGI
- long radius / MGI
- absent gastric milk in neonates / MGI
- abnormal chondrocyte physiology / MGI
- increased hyoid bone size / MGI
- abnormal thoracic cage shape / MGI
- small thoracic cage / MGI
- prognathia / MGI
- mortality/aging / MGI
- abnormal foramen magnum morphology / MGI
- lethality at weaning, complete penetrance / MGI
- lethality at weaning, incomplete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- abnormal head size / MGI
- increased fibroblast proliferation / MGI
- enhanced osteoblast differentiation / MGI
- increased or absent threshold for auditory brainstem response / MGI
- midface hypoplasia / MGI
- wide sternum / MGI
- abnormal tail position or orientation / MGI
- wavy tail / MGI
- abnormal chondrocyte proliferation / MGI
- increased chondrocyte proliferation / MGI
- decreased chondrocyte proliferation / MGI
- abnormal chondrocyte differentiation / MGI
- increased bone ossification / MGI
- foramen magnum stenosis / MGI
- small snout / MGI
- round head / MGI
- maxillary retrognathia / MGI
- thin frontal bone / MGI
- thin parietal bone / MGI
- abnormal maxillary zygomatic process morphology / MGI
- small presphenoid bone / MGI
- short basicranium / MGI
- premature cranial synchondrosis closure / MGI
- misaligned incisors / MGI
- large femur head / MGI
C57BL/6N-Fgfr3tm1.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16152 |
| Citation information | RRID:IMSR_EM:16152 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 name | C57BL/6N-Fgfr3tm1.1Ics/Ics |
| Alternative name | Fgfr3tm1.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Fgfr3tm1.1Ics |
| Gene/Transgene symbol | Fgfr3 |
Information from provider
| Provider | Laurence Legeai-Mallet |
| Provider affiliation | INSERM U1163, Institut Imagine, Université Paris Cité |
| Genetic information | A 1553 GCA>GAA substitution in exon 9 (A385E) and a floxed neo-Prm1-cre cassette were inserted via homologous recombination. Following male germline transmission the floxed neo-Prm1-cre cassette was removed. |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | 100% C57BL/6N (C57BL/6NCrl 50%, C57BL/6NTac 50%) |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
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 (gene matching)
Literature references
- FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.;Cornille Maxence, Moriceau Stéphanie, Khonsari Roman H, Heuzé Yann, Loisay Léa, Boitez Valérie, Morice Anne, Arnaud Eric, Collet Corinne, Bensidhoum Morad, Kaci Nabil, Boddaert Nathalie, Paternoster Giovanna, Rauschendorfer Theresa, Werner Sabine, Mansour Suzanne L, Di Rocco Federico, Oury Franck, Legeai-Mallet Laurence, ;2022;The Journal of experimental medicine;219;; 35254402
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).
