- 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
CD1.Cg-Fgfr2tm4Lni/H
Status | Available to order |
EMMA ID | EM:02488 |
International strain name | CD1.Cg-Fgfr2tm4Lni/H |
Alternative name | CD1-FGFR2c342y |
Strain type | Targeted Mutant Strains : Point mutation |
Allele/Transgene symbol | Fgfr2tm4Lni, |
Gene/Transgene symbol | Fgfr2 |
Information from provider
Provider | Christian Babbs |
Provider affiliation | Weatherall Institute of Molecular Medicine, University of Oxford |
Additional owner | Prof. V. P. Eswarakumar, Dept. of Pharmacology, Yale School of Medicine, New Haven, CT, USA |
Genetic information | This 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 information | Fgfr2c(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 history | Backcrossed 11 generations to a CD1 background. |
References |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous CD-1 outbred stock (syn.: outbr. CD-1 or CD1, Swiss CD-1 or CD1, ICR(CD-1), etc.) |
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
- Pfeiffer syndrome type 3 / Orphanet_93260
- Apert syndrome / Orphanet_87
- Pfeiffer syndrome type 1 / Orphanet_93258
- Pfeiffer syndrome type 2 / Orphanet_93259
- Crouzon disease / Orphanet_207
- FGFR2-related bent bone dysplasia / Orphanet_313855
- Familial scaphocephaly syndrome, McGillivray type / Orphanet_168624
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome / Orphanet_1555
- Antley-Bixler syndrome / Orphanet_83
- Lacrimoauriculodentodigital syndrome / Orphanet_2363
- Jackson-Weiss syndrome / Orphanet_1540
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis / Orphanet_596008
MGI phenotypes (allele matching)
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
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