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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Fgfr2tm1Ewj
targeted mutation 1, Ethylin Wang Jabs
MGI:3603464
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0 		B6.Cg-Fgfr2tm1Ewj Tg(EIIa-cre)C5379Lmgd MGI:4440857
cn2
 		Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:3604025


Genotype
MGI:4440857
cn1
Allelic
Composition		 Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background		 B6.Cg-Fgfr2tm1Ewj Tg(EIIa-cre)C5379Lmgd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm1Ewj mutation (0 available); any Fgfr2 mutation (90 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Skull analysis of Fgfr2tm2Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 and Fgfr2tm1Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 mice

skeleton
enhanced osteoblast differentiation ( J:158773 )
• as determined by marker expression, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
increased osteoblast proliferation ( J:158773 )
• osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
abnormal cranial suture morphology ( J:158773 )
• the suture between the horizontal plate of the palatine bone and palatal process of the maxilla is fused unlike in wild-type mice
abnormal coronal suture morphology ( J:158773 )
• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
abnormal intermaxillary suture morphology ( J:158773 )
• the inter-premaxillary suture appears patent unlike in wild-type mice
abnormal maxillary-premaxillary suture morphology ( J:158773 )
• mice exhibit premature closure of the premaxillary-maxillary sutures unlike wild-type mice
increased cranium height ( J:158773 )
• skull height is increased compared to in wild-type mice
short maxilla ( J:158773 )
• mice exhibit shorter maxilla than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
short nasal bone ( J:158773 )
• the nasal region is shorter than in wild-type mice
premature coronal suture closure ( J:158773 )
• at P0, mice exhibit coronal suture presynostosis or synostosis unlike wild-type mice
premature zygomaticomaxillary suture closure ( J:158773 )
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones unlike wild-type mice

craniofacial
abnormal cranial suture morphology ( J:158773 )
• the suture between the horizontal plate of the palatine bone and palatal process of the maxilla is fused unlike in wild-type mice
abnormal coronal suture morphology ( J:158773 )
• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
abnormal intermaxillary suture morphology ( J:158773 )
• the inter-premaxillary suture appears patent unlike in wild-type mice
abnormal maxillary-premaxillary suture morphology ( J:158773 )
• mice exhibit premature closure of the premaxillary-maxillary sutures unlike wild-type mice
increased cranium height ( J:158773 )
• skull height is increased compared to in wild-type mice
short maxilla ( J:158773 )
• mice exhibit shorter maxilla than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
short nasal bone ( J:158773 )
• the nasal region is shorter than in wild-type mice
abnormal palate morphology ( J:158773 )
• the most posterior portion of the palate is reduced compared to in wild-type mice
abnormal palatal shelf fusion at midline ( J:158773 )
• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
decreased palatal length ( J:158773 )
• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes

digestive/alimentary system
abnormal palate morphology ( J:158773 )
• the most posterior portion of the palate is reduced compared to in wild-type mice
abnormal palatal shelf fusion at midline ( J:158773 )
• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
decreased palatal length ( J:158773 )
• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes

cellular
enhanced osteoblast differentiation ( J:158773 )
• as determined by marker expression, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
increased osteoblast proliferation ( J:158773 )
• osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

vision/eye
decreased inner canthal distance ( J:158773 )
• intercanthal distance is reduced compared to in wild-type mice

growth/size/body
short nasal bone ( J:158773 )
• the nasal region is shorter than in wild-type mice
abnormal palate morphology ( J:158773 )
• the most posterior portion of the palate is reduced compared to in wild-type mice
abnormal palatal shelf fusion at midline ( J:158773 )
• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
decreased palatal length ( J:158773 )
• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes

respiratory system
short nasal bone ( J:158773 )
• the nasal region is shorter than in wild-type mice




Genotype
MGI:3604025
cn2
Allelic
Composition		 Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm1Ewj mutation (0 available); any Fgfr2 mutation (90 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:101174 )
• mutants with complete recombination die within 24 -36 hours of birth; however, 2 mutants with only partial recombination survived to adulthood

respiratory system
abnormal nasal bone morphology ( J:101174 )
• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
pulmonary alveolar proteinosis ( J:101174 )
• presence of proteinaceous fluid in the alveoli is observed
bronchiolectasis ( J:101174 )
• multifocal and acute bronchiolectasis with mild dilation of the bronchioles are seen in mutants with complete recombination
atelectasis ( J:101174 )
• moderate and diffuse atelectasis with lack of alveolar expansion and the presence of proteinaceous fluid in the alveoli is observed
abnormal tracheal cartilage morphology ( J:101174 )
• a complete cartilage sleeve surrounds the trachea in mutants with complete recombination
respiratory failure ( J:101174 )
• seen in mutants with complete recombination

skeleton
abnormal osteoblast differentiation ( J:101174 )
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• at E18.5 in mutants with complete recombination no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
abnormal cranial suture morphology ( J:101174 )
• in mutants with only partial recombination at 10 months of age multiple interfrontal suture defects are seen and the fronto-premaxillary, premaxillary-maxillary, and nasal-frontal sutures are obliterated
wide metopic suture ( J:101174 )
• at P1 in mutants with complete recombination the space between the osteogenic fronts is increased
• at E18.5 in mutants with complete recombination increased numbers of proliferating cells are seen between the osteogenic fronts and no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
abnormal sagittal suture morphology ( J:101174 )
• at E16.5 and E18.5 in mutants with complete recombination ectopic cartilage is found along all (E16.5) or over half (E18.5) of the length of the suture
• at E18.5 in mutants with complete recombination the space between the osteogenic fronts is decreased and at P1 the osteogenic fronts are very close and osteoid is deposited between the fronts prior to synostosis
• at E18.5 and P1 in mutants with complete recombination twice as many proliferating cells are seen and some of these cells are abnormally distributed in the space between the osteogenic fronts
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
abnormal basicranium morphology ( J:101174 )
• increased cartilage is found on the basicranium at birth in mutants with complete recombination
• structures of the basicranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
decreased cranium height ( J:101174 )
• skull height is significantly reduced in mutants with complete recombination
decreased cranium length ( J:101174 )
• skull length is significantly reduced in mutants with complete recombination
small cranium ( J:101174 )
• skull length and height are significantly reduced in mutants with complete recombination
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
abnormal interparietal bone morphology ( J:101174 )
• the interparietal bone is compressed superiorly at the lambdoid suture in mutants with only partial recombination at 10 months of age
parietal bossing ( J:101174 )
• the parietal bones have an obvious superior bulge in mutants with only partial recombination at 10 months of age
abnormal zygomatic arch morphology ( J:101174 )
• the temporal process of the zygomatic bone is fused to the zygomatic process of the temporal bone in mutants with complete recombination
small neurocranium ( J:101174 )
• structures of the neurocranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
abnormal mandibular angle morphology ( J:101174 )
• dysmorphic angular process in mutants with only partial recombination at 10 months of age
small mandible ( J:101174 )
• the mandible is very small in mutants with only partial recombination at 10 months of age
abnormal maxillary frontal process morphology ( J:101174 )
• the frontal process of the maxilla has an abnormally large sinus and bowing of the medial wall in mutants with only partial recombination at 10 months of age
abnormal maxillary zygomatic process morphology ( J:101174 )
• the zygomatic process is bowed more laterally in mutants with only partial recombination at 10 months of age
short maxilla ( J:101174 )
• seen in mutants with complete recombination
abnormal nasal bone morphology ( J:101174 )
• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
decreased osteoclast cell number ( J:101174 )
• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
abnormal cartilage morphology ( J:101174 )
• the nasal cartilage is thickened
abnormal tracheal cartilage morphology ( J:101174 )
• a complete cartilage sleeve surrounds the trachea in mutants with complete recombination
abnormal cartilage development ( J:101174 )
• in mutants with complete recombination, more prominent cartilage mineralization is seen in the long bones at P1; however, limb lengths are proportional to body size and no syndactyly is seen
abnormal long bone hypertrophic chondrocyte zone ( J:101174 )
• in mutants with complete recombination, the hypertrophic zone of the growth plate of the long bones is subtly irregular
premature cranial suture closure ( J:101174 )
• seen in 6 of 9 mutants with complete recombination
premature coronal suture closure ( J:101174 , J:156940 )
• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen (J:101174)
• at P0, mice exhibit variation in the pattern and degree of coronal suture closure compared with wild-type mice (J:156940)
• mice exhibit unilateral or bilateral coronal suture synostosis unlike wild-type mice (J:156940)
premature lambdoid suture closure ( J:101174 )
• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen

growth/size/body
abnormal nasal bone morphology ( J:101174 )
• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
small face ( J:101174 )
• structures of the face are about 40-50% smaller in mutants with only partial recombination at 10 months of age
abnormal palate morphology ( J:101174 )
• malformations of the palate are seen in all mutants
abnormal head shape ( J:101174 )
• in mutants with only partial recombination at 10 months of age head shape is abnormal
shortened head ( J:101174 )
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
meteorism ( J:101174 )
• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination
decreased birth weight ( J:101174 )
• at birth in mutants with complete recombination body weight is about 83% that of wild-type littermates
decreased body weight ( J:101174 )
• in mutants with only partial recombination at 10 months of age body weight is 29% that of wild-type littermates
decreased body length ( J:101174 )
• in mutants with only partial recombination at 10 months of age body length is 68% that of wild-type littermates

cardiovascular system
dilated heart atrium ( J:101174 )
• mild dilation of the atria is seen in mutants with complete recombination
abnormal vasodilation ( J:101174 )
• mild dilation of the great vessels at the base of the heart is seen in mutants with complete recombination

immune system
abnormal thymus morphology ( J:101174 )
• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination
decreased osteoclast cell number ( J:101174 )
• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
bronchiolectasis ( J:101174 )
• multifocal and acute bronchiolectasis with mild dilation of the bronchioles are seen in mutants with complete recombination

nervous system
abnormal brain morphology ( J:156940 )
• 4 of 10 mice exhibit severe brain asymmetry unlike in wild-type mice
• 1 of 10 mice exhibit mild brain asymmetry unlike in wild-type mice
• rostrocaudal brain length is decreased compared to in wild-type mice
hydrocephaly ( J:101174 )
• mild hydroencephaly with enlarged ventricles is present in mutants with complete recombination
enlarged fourth ventricle ( J:156940 )
• in 2 of 10 mice
abnormal cerebral hemisphere morphology ( J:156940 )
• cerebral height is increased compared to in wild-type mice
• mice exhibit cerebral asymmetry to varying degrees compared with wild-type mice
abnormal corpus callosum morphology ( J:156940 )
• arched in 2 of 10 mice

craniofacial
abnormal cranial suture morphology ( J:101174 )
• in mutants with only partial recombination at 10 months of age multiple interfrontal suture defects are seen and the fronto-premaxillary, premaxillary-maxillary, and nasal-frontal sutures are obliterated
wide metopic suture ( J:101174 )
• at P1 in mutants with complete recombination the space between the osteogenic fronts is increased
• at E18.5 in mutants with complete recombination increased numbers of proliferating cells are seen between the osteogenic fronts and no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
abnormal sagittal suture morphology ( J:101174 )
• at E16.5 and E18.5 in mutants with complete recombination ectopic cartilage is found along all (E16.5) or over half (E18.5) of the length of the suture
• at E18.5 in mutants with complete recombination the space between the osteogenic fronts is decreased and at P1 the osteogenic fronts are very close and osteoid is deposited between the fronts prior to synostosis
• at E18.5 and P1 in mutants with complete recombination twice as many proliferating cells are seen and some of these cells are abnormally distributed in the space between the osteogenic fronts
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
abnormal basicranium morphology ( J:101174 )
• increased cartilage is found on the basicranium at birth in mutants with complete recombination
• structures of the basicranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
decreased cranium height ( J:101174 )
• skull height is significantly reduced in mutants with complete recombination
decreased cranium length ( J:101174 )
• skull length is significantly reduced in mutants with complete recombination
small cranium ( J:101174 )
• skull length and height are significantly reduced in mutants with complete recombination
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
abnormal interparietal bone morphology ( J:101174 )
• the interparietal bone is compressed superiorly at the lambdoid suture in mutants with only partial recombination at 10 months of age
parietal bossing ( J:101174 )
• the parietal bones have an obvious superior bulge in mutants with only partial recombination at 10 months of age
abnormal zygomatic arch morphology ( J:101174 )
• the temporal process of the zygomatic bone is fused to the zygomatic process of the temporal bone in mutants with complete recombination
small neurocranium ( J:101174 )
• structures of the neurocranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
abnormal mandibular angle morphology ( J:101174 )
• dysmorphic angular process in mutants with only partial recombination at 10 months of age
small mandible ( J:101174 )
• the mandible is very small in mutants with only partial recombination at 10 months of age
abnormal maxillary frontal process morphology ( J:101174 )
• the frontal process of the maxilla has an abnormally large sinus and bowing of the medial wall in mutants with only partial recombination at 10 months of age
abnormal maxillary zygomatic process morphology ( J:101174 )
• the zygomatic process is bowed more laterally in mutants with only partial recombination at 10 months of age
short maxilla ( J:101174 )
• seen in mutants with complete recombination
abnormal nasal bone morphology ( J:101174 )
• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
small face ( J:101174 )
• structures of the face are about 40-50% smaller in mutants with only partial recombination at 10 months of age
abnormal palate morphology ( J:101174 )
• malformations of the palate are seen in all mutants
abnormal head shape ( J:101174 )
• in mutants with only partial recombination at 10 months of age head shape is abnormal
shortened head ( J:101174 )
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape

hematopoietic system
abnormal thymus morphology ( J:101174 )
• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination
decreased osteoclast cell number ( J:101174 )
• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones

digestive/alimentary system
abnormal palate morphology ( J:101174 )
• malformations of the palate are seen in all mutants
aerophagia ( J:101174 )
• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination
meteorism ( J:101174 )
• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination

muscle
abnormal vasodilation ( J:101174 )
• mild dilation of the great vessels at the base of the heart is seen in mutants with complete recombination

homeostasis/metabolism
pulmonary alveolar proteinosis ( J:101174 )
• presence of proteinaceous fluid in the alveoli is observed

cellular
abnormal osteoblast differentiation ( J:101174 )
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• at E18.5 in mutants with complete recombination no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice

endocrine/exocrine glands
abnormal thymus morphology ( J:101174 )
• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
acrocephalosyndactylia DOID:12960 OMIM:101200
 J:101174 , J:156940




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory