CD1.Cg-Fgfr2^tm4Lni/H

Status	Available to order
EMMA ID	EM:02488
International strain name	CD1.Cg-Fgfr2^tm4Lni/H
Alternative name	CD1-FGFR2c342y
Strain type	Targeted Mutant Strains : Point mutation
Allele/Transgene symbol	Fgfr2^tm4Lni
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	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 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

Crouzon syndrome / DOID:2339

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)

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

MGI phenotypes (gene matching)

abnormal cochlea morphology / MGI
abnormal membranous labyrinth morphology / MGI
abnormal otic capsule morphology / MGI
delayed bone ossification / MGI
abnormal neurocranium morphology / MGI
premature cranial suture closure / MGI
short maxilla / MGI
abnormal nasal bone morphology / MGI
abnormal sphenoid bone morphology / MGI
abnormal basisphenoid bone morphology / MGI
abnormal frontal bone morphology / MGI
cleft palate / MGI
arrest of tooth development / MGI
malocclusion / MGI
abnormal vertebrae morphology / MGI
abnormal scapula morphology / MGI
abnormal sternum morphology / MGI
abnormal xiphoid process morphology / MGI
abnormal chondrocyte morphology / MGI
hypoglycemia / MGI
abnormal heart development / MGI
overriding aortic valve / MGI
ventricular hypoplasia / MGI
thin ventricular wall / MGI
double outlet right ventricle / MGI
abnormal hair follicle morphology / MGI
decreased hair follicle number / MGI
abnormal craniofacial morphology / MGI
abnormal head morphology / MGI
shortened head / MGI
abnormal cranium morphology / MGI
domed cranium / MGI
short snout / MGI
abnormal digestive system morphology / MGI
abnormal stomach morphology / MGI
abnormal rectum morphology / MGI
abnormal kidney cortex morphology / MGI
abnormal kidney development / MGI
abnormal urethra morphology / MGI
absent limbs / MGI
absent forelimb / MGI
absent hindlimb / MGI
abnormal liver development / MGI
abnormal salivary gland morphology / MGI
absent mammary gland / MGI
decreased prostate gland duct number / MGI
abnormal thymus development / MGI
abnormal tongue morphology / MGI
decreased brain size / MGI
abnormal corpus callosum morphology / MGI
abnormal lung morphology / MGI
abnormal lung development / MGI
pulmonary hypoplasia / MGI
absent lungs / MGI
thin skin / MGI
translucent skin / MGI
abnormal epidermal layer morphology / MGI
thin epidermis / MGI
thick epidermis / MGI
epidermal hyperplasia / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal epidermis stratum corneum morphology / MGI
thin dermal layer / MGI
decreased body weight / MGI
decreased body size / MGI
ocular hypertelorism / MGI
eyelids open at birth / MGI
absent eyelids / MGI
absent lacrimal glands / MGI
abnormal intestinal glucose absorption / MGI
abnormal embryo development / MGI
abnormal apical ectodermal ridge morphology / MGI
absent apical ectodermal ridge / MGI
abnormal endoderm development / MGI
decreased embryo size / MGI
abnormal placenta morphology / MGI
abnormal placenta development / MGI
abnormal umbilical cord morphology / MGI
postnatal growth retardation / MGI
acanthosis / MGI
abnormal respiration / MGI
respiratory failure / MGI
respiratory distress / MGI
neonatal lethality / MGI
abnormal seminal vesicle morphology / MGI
abnormal skin morphology / MGI
abnormal developmental patterning / MGI
abnormal axial skeleton morphology / MGI
abnormal brain morphology / MGI
no abnormal phenotype detected / MGI
abnormal bronchiole morphology / MGI
abnormal pulmonary circulation / MGI
abnormal semicircular canal morphology / MGI
abnormal keratinocyte morphology / MGI
absent blastocoele / MGI
small stomach / MGI
exophthalmos / MGI
small kidney / MGI
primary sex reversal / MGI
no phenotypic analysis / MGI
curly tail / MGI
abnormal egg cylinder morphology / MGI
abnormal tracheal cartilage morphology / MGI
hypospadia / MGI
fused joints / MGI
abnormal placenta vasculature / MGI
abnormal cochlear sensory epithelium morphology / MGI
abnormal perineum morphology / MGI
absent placental labyrinth / MGI
decreased width of hypertrophic chondrocyte zone / MGI
delayed intramembranous bone ossification / MGI
small lung / MGI
abnormal vestibulocochlear ganglion morphology / MGI
abnormal hair follicle development / MGI
abnormal facial morphology / MGI
abnormal palate morphology / MGI
decreased palatal length / MGI
abnormal pituitary gland development / MGI
abnormal coronal suture morphology / MGI
abnormal decidualization / MGI
abnormal pancreas development / MGI
abnormal ear development / MGI
embryonic growth retardation / MGI
abnormal interventricular groove morphology / MGI
atrium hypoplasia / MGI
abnormal trabecula carnea morphology / MGI
decreased fetal size / MGI
small pancreas / MGI
abnormal spongiotrophoblast layer morphology / MGI
small otic vesicle / MGI
split sternum / MGI
abnormal sternebra morphology / MGI
small scapula / MGI
absent acromion / MGI
small frontal bone / MGI
small parietal bone / MGI
abnormal presphenoid bone morphology / MGI
absent presphenoid bone / MGI
abnormal zygomatic arch morphology / MGI
decreased renal glomerulus number / MGI
abnormal ischium morphology / MGI
abnormal pelvic girdle bone morphology / MGI
abnormal palatine bone horizontal plate morphology / MGI
fused tracheal cartilage rings / MGI
enlarged allantois / MGI
absent limb buds / MGI
vertebral fusion / MGI
caudal vertebral fusion / MGI
cervical vertebral fusion / MGI
split xiphoid process / MGI
absent pubis / MGI
abnormal nasal capsule morphology / MGI
abnormal synaptic vesicle number / MGI
abnormal synaptic vesicle clustering / MGI
long incisors / MGI
increased prostate gland weight / MGI
inner cell mass degeneration / MGI
increased osteoblast cell number / MGI
decreased osteoblast cell number / MGI
abnormal osteoblast physiology / MGI
abnormal trophoblast layer morphology / MGI
abnormal palatine bone morphology / MGI
abnormal heart ventricle morphology / MGI
abnormal clavicle morphology / MGI
absent thyroid gland / MGI
abnormal ilium morphology / MGI
renal/urinary system phenotype / MGI
growth/size/body region phenotype / MGI
endocrine/exocrine gland phenotype / MGI
embryo phenotype / MGI
digestive/alimentary phenotype / MGI
abnormal endolymphatic duct morphology / MGI
impaired lung alveolus development / MGI
abnormal otic vesicle development / MGI
lethality throughout fetal growth and development / MGI
shallow orbits / MGI
abnormal limb development / MGI
inner ear cysts / MGI
small otic capsule / MGI
decreased molar number / MGI
abnormal bone ossification / MGI
abnormal endochondral bone ossification / MGI
abnormal sternum ossification / MGI
absent adenohypophysis / MGI
slow postnatal weight gain / MGI
decreased cranium height / MGI
enlarged fourth ventricle / MGI
enlarged lateral ventricles / MGI
abnormal cerebral hemisphere morphology / MGI
abnormal sternum manubrium morphology / MGI
abnormal vibrissa number / MGI
dilated proximal convoluted tubules / MGI
dilated distal convoluted tubules / MGI
abnormal appendicular skeleton morphology / MGI
increased trophoblast giant cell number / MGI
abnormal cecum development / MGI
absent rectum / MGI
cecal atresia / MGI
submandibular gland hypoplasia / MGI
absent submandibular gland / MGI
abnormal submandibular duct morphology / MGI
abnormal dermis papillary layer morphology / MGI
abnormal right lung morphology / MGI
epidermis stratum granulosum hyperplasia / MGI
epidermis stratum spinosum hyperplasia / MGI
abnormal palate development / MGI
abnormal secondary palate development / MGI
failure of chorioallantoic fusion / MGI
decreased birth body size / MGI
abnormal prostate gland branching morphogenesis / MGI
palatal shelf fusion with tongue or mandible / MGI
abnormal palatal shelf fusion at midline / MGI
palatal shelves fail to meet at midline / MGI
cleft secondary palate / MGI
abnormal basicranium morphology / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
abnormal truncus arteriosus septation / MGI
absent pulmonary artery / MGI
abnormal left posterior bundle morphology / MGI
abnormal conotruncal ridge morphology / MGI
conotruncal ridge hypoplasia / MGI
absent pulmonary vein / MGI
delayed cranial suture closure / MGI
abnormal pulmonary acinus morphology / MGI
impaired lung lobe morphogenesis / MGI
impaired branching involved in trachea morphogenesis / MGI
postnatal lethality, complete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
embryonic lethality between implantation and somite formation, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
absent hypodermis muscle layer / MGI
absent primitive endoderm / MGI
decreased nephron number / MGI
abnormal head shape / MGI
decreased skin pigmentation / MGI
absent Rathke's pouch / MGI
midface hypoplasia / MGI
split sternal manubrium / MGI
tongue ankylosis / MGI
abnormal adrenal gland development / MGI
abnormal seminal vesicle development / MGI
abnormal branching involved in seminal vesicle morphogenesis / MGI
abnormal Rathke's pouch development / MGI
abnormal Rathke's pouch apoptosis / MGI
abnormal stomach glandular region morphology / MGI
abnormal nasal gland morphology / MGI
abnormal lateral nasal gland morphology / MGI
abnormal mammary placode morphology / MGI
absent palatal rugae / MGI
abnormal mammary gland bud morphology / MGI
abnormal seminal vesicle muscle layer morphology / MGI
absent exorbital lacrimal gland / MGI
wide cranial sutures / MGI
short face / MGI
abnormal nasomaxillary suture morphology / MGI
abnormal nasal septum cartilage morphology / MGI
thick nasal septum / MGI
premature coronal suture closure / MGI
premature squamoparietal suture closure / MGI
premature zygomaticomaxillary suture closure / MGI
short basicranium / MGI
abnormal osteoblast proliferation / MGI
abnormal cranial cartilage morphology / MGI
absent teeth / 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
Analysis of the Fgfr2^C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme.;Peskett Emma, Kumar Samin, Baird William, Jaiswal Janhvi, Li Ming, Patel Priyanca, Britto Jonathan A, Pauws Erwin, ;2017;Biology open;6;223-231; 28069589
Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.;Moazen Mehran, Hejazi Mahbubeh, Savery Dawn, Jones Dominic, Marghoub Arsalan, Alazmani Ali, Pauws Erwin, ;2022;Scientific reports;12;9693; 35690633

Information on how we integrate external resources can be found here

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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^*
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CD1.Cg-Fgfr2tm4Lni/H