Phenotypes associated with this allele

• Allele Symbol: Fgfr2^m1Sgg
• Allele Name: mutation 1, S G Gong
• Allele ID: MGI:4461798
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr2^m1Sgg/Fgfr2^m1Sgg	involves: C3H/HeJ * C57BL/6J	MGI:4461806
ht2	Fgfr2^m1Sgg/Fgfr2^+	involves: C3H/HeJ * C57BL/6J	MGI:4461807

Genotype
MGI:4461806

hm1

• Allelic Composition: Fgfr2^m1Sgg/Fgfr2^m1Sgg
• Genetic Background: involves: C3H/HeJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality ( J:160674 )

skeleton

abnormal cranium morphology ( J:160674 )

• cranial bones are smaller than in wild-type mice

wide cranial sutures ( J:160674 )

• sutural spaces are wider than in wild-type mice

abnormal basisphenoid bone morphology ( J:160674 )

abnormal cranial cartilage morphology ( J:160674 )

• the layer of cartilage underlying the cranial vault is thickened compared to in wild-type mice

small frontal bone ( J:160674 )

small parietal bone ( J:160674 )

absent presphenoid bone ( J:160674 )

abnormal zygomatic arch morphology ( J:160674 )

• mice exhibit zygomatic arch fused together at the anterior joint unlike in wild-type mice

shallow orbits ( J:160674 )

arrest of tooth development ( J:160674 )

• teeth fail to develop beyond the bud stage unlike in wild-type mice

abnormal palatine bone horizontal plate morphology ( J:160674 )

• secondary palate shelves remain vertical and short unlike in wild-type mice

abnormal nasal capsule morphology ( J:160674 )

• at P0, the nasal capsule is shorter antero-posteriorly with a thickened nasal septum compared to in wild-type mice

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

abnormal sternum morphology ( J:160674 )

• sternal thickening, cartilage ossification and misalignment, and abnormal bifurcation of the bone and cartilage structures that cap the ends of the sternum

abnormal sternum manubrium morphology ( J:160674 )

abnormal xiphoid process morphology ( J:160674 )

split sternum ( J:160674 )

abnormal vertebrae morphology ( J:160674 )

• mice exhibit some incompletely formed and fused vertebrae unlike wild-type mice

vertebral fusion ( J:160674 )

cervical vertebral fusion ( J:160674 )

decreased osteoblast cell number ( J:160674 )

• fewer Runx2+ cells are found surrounding the edge of the coronal sutures compared to in wild-type mice

abnormal chondrocyte morphology ( J:160674 )

• chondrocytes in the nasal septum are small and disorganized compared to in wild-type mice

abnormal endochondral bone ossification ( J:160674 )

delayed cranial suture closure ( J:160674 )

• newborns show delayed ossification of the cranial sutures

respiratory system

abnormal nasal capsule morphology ( J:160674 )

• at P0, the nasal capsule is shorter antero-posteriorly with a thickened nasal septum compared to in wild-type mice

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

thick nasal septum ( J:160674 )

• the nasal septum is thickened compared to in wild-type mice

impaired lung lobe morphogenesis ( J:160674 )

• mice lack lobular lung structures unlike wild-type mice

small lung ( J:160674 )

respiratory distress ( J:160674 )

endocrine/exocrine glands

absent submandibular gland ( J:160674 )

absent lacrimal glands ( J:160674 )

small pancreas ( J:160674 )

growth/size/body

arrest of tooth development ( J:160674 )

• teeth fail to develop beyond the bud stage unlike in wild-type mice

abnormal palatine bone horizontal plate morphology ( J:160674 )

• secondary palate shelves remain vertical and short unlike in wild-type mice

abnormal nasal capsule morphology ( J:160674 )

• at P0, the nasal capsule is shorter antero-posteriorly with a thickened nasal septum compared to in wild-type mice

abnormal palate development ( J:160674 )

• primary and secondary formation is retarded compared to in wild-type mice

abnormal tongue morphology ( J:160674 )

• tongue shape is abnormal and trapezoid unlike in wild-type mice

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

thick nasal septum ( J:160674 )

• the nasal septum is thickened compared to in wild-type mice

short snout ( J:160674 )

decreased embryo size ( J:160674 )

vision/eye

shallow orbits ( J:160674 )

absent lacrimal glands ( J:160674 )

exophthalmos ( J:160674 )

hearing/vestibular/ear

abnormal ear development ( J:160674 )

• the ear capsule is reduced in size compared to in wild-type mice

digestive/alimentary system

abnormal digestive system morphology ( J:160674 )

• mice exhibit shorter gastrointestinal tract compared with wild-type mice

• the abdominal cavity is relatively empty compared to in wild-type mice

abnormal palatine bone horizontal plate morphology ( J:160674 )

• secondary palate shelves remain vertical and short unlike in wild-type mice

abnormal palate development ( J:160674 )

• primary and secondary formation is retarded compared to in wild-type mice

abnormal tongue morphology ( J:160674 )

• tongue shape is abnormal and trapezoid unlike in wild-type mice

absent submandibular gland ( J:160674 )

limbs/digits/tail

abnormal limb development ( J:160674 )

• limb growth is arrested distal to the scapula unlike in wild-type mice

absent apical ectodermal ridge ( J:160674 )

absent limbs ( J:160674 )

nervous system

decreased brain size ( J:160674 )

renal/urinary system

small kidney ( J:160674 )

craniofacial

abnormal cranium morphology ( J:160674 )

• cranial bones are smaller than in wild-type mice

wide cranial sutures ( J:160674 )

• sutural spaces are wider than in wild-type mice

abnormal basisphenoid bone morphology ( J:160674 )

abnormal cranial cartilage morphology ( J:160674 )

• the layer of cartilage underlying the cranial vault is thickened compared to in wild-type mice

small frontal bone ( J:160674 )

small parietal bone ( J:160674 )

absent presphenoid bone ( J:160674 )

abnormal zygomatic arch morphology ( J:160674 )

• mice exhibit zygomatic arch fused together at the anterior joint unlike in wild-type mice

shallow orbits ( J:160674 )

arrest of tooth development ( J:160674 )

• teeth fail to develop beyond the bud stage unlike in wild-type mice

abnormal palatine bone horizontal plate morphology ( J:160674 )

• secondary palate shelves remain vertical and short unlike in wild-type mice

abnormal nasal capsule morphology ( J:160674 )

• at P0, the nasal capsule is shorter antero-posteriorly with a thickened nasal septum compared to in wild-type mice

abnormal palate development ( J:160674 )

• primary and secondary formation is retarded compared to in wild-type mice

abnormal tongue morphology ( J:160674 )

• tongue shape is abnormal and trapezoid unlike in wild-type mice

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

thick nasal septum ( J:160674 )

• the nasal septum is thickened compared to in wild-type mice

short snout ( J:160674 )

embryo

decreased embryo size ( J:160674 )

absent apical ectodermal ridge ( J:160674 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Crouzon syndrome		DOID:2339	OMIM:123500	J:160674

Genotype
MGI:4461807

ht2

• Allelic Composition: Fgfr2^m1Sgg/Fgfr2⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

craniofacial

abnormal craniofacial morphology ( J:160674 )

• at 3 weeks of age, mice exhibit short snout, retruded mid-face, and variable septal deviation unlike wild-type mice

wide cranial sutures ( J:160674 )

• sutural spaces are wider than in wild-type mice

abnormal basisphenoid bone morphology ( J:160674 )

decreased cranium height ( J:160674 )

• mice exhibit decreased antero-posterior skull length compared with wild-type mice

absent presphenoid bone ( J:160674 )

long incisors ( J:160674 )

malocclusion ( J:160674 )

domed cranium ( J:160674 )

abnormal palatal shelf fusion at midline ( J:160674 )

• mice exhibit a delay in horizontal secondary palate formation in the posterior edge of the maxillary bone and hard tissue clefts on the secondary palate compared with wild-type mice

cleft secondary palate ( J:160674 )

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

short snout ( J:160674 )

growth/size/body

growth/size/body region phenotype ( J:160674 )

N • 3 weeks postnatal, mice exhibit normal body size and weight

long incisors ( J:160674 )

malocclusion ( J:160674 )

abnormal palatal shelf fusion at midline ( J:160674 )

• mice exhibit a delay in horizontal secondary palate formation in the posterior edge of the maxillary bone and hard tissue clefts on the secondary palate compared with wild-type mice

cleft secondary palate ( J:160674 )

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

short snout ( J:160674 )

decreased embryo size ( J:160674 )

decreased birth body size ( J:160674 )

• slightly

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:160674 )

• mice exhibit a delay in horizontal secondary palate formation in the posterior edge of the maxillary bone and hard tissue clefts on the secondary palate compared with wild-type mice

cleft secondary palate ( J:160674 )

embryo

decreased embryo size ( J:160674 )

hearing/vestibular/ear

abnormal ear development ( J:160674 )

• the ear capsule is reduced in size compared to in wild-type mice

respiratory system

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

skeleton

wide cranial sutures ( J:160674 )

• sutural spaces are wider than in wild-type mice

abnormal basisphenoid bone morphology ( J:160674 )

decreased cranium height ( J:160674 )

• mice exhibit decreased antero-posterior skull length compared with wild-type mice

absent presphenoid bone ( J:160674 )

long incisors ( J:160674 )

malocclusion ( J:160674 )

domed cranium ( J:160674 )

abnormal nasal septum cartilage morphology ( J:160674 )

• nasal septum shows a lack of ordered columnar organization of chondrocytes compared to in wild-type mice

abnormal sternum morphology ( J:160674 )

decreased osteoblast cell number ( J:160674 )

• fewer Runx2+ cells are found surrounding the edge of the coronal sutures compared to in wild-type mice

abnormal chondrocyte morphology ( J:160674 )

• pericellular spaces in the nasal septum chondrocytes are bigger than in wild-type mice

abnormal endochondral bone ossification ( J:160674 )

premature coronal suture closure ( J:160674 )

• premature fusion in some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Crouzon syndrome		DOID:2339	OMIM:123500	J:160674