Phenotypes associated with this allele

• Allele Symbol: Fgfr2^tm2Ewj
• Allele Name: targeted mutation 2, Ethylin Wang Jabs
• Allele ID: MGI:4430185
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Fgfr2^tm2Ewj/Fgfr2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:4430189
cn2	Fgfr2^tm2Ewj/Fgfr2^+ Tg(EIIa-cre)C5379Lmgd/0	B6.Cg-Fgfr2^tm2Ewj Tg(EIIa-cre)C5379Lmgd	MGI:4440856

Genotype
MGI:4430189

ht1

• Allelic Composition: Fgfr2^tm2Ewj/Fgfr2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

nervous system

abnormal brain morphology ( J:156940 )

• 1 of 14 mice exhibit severe brain asymmetry unlike in wild-type mice

• 1 of 14 mice exhibit mild brain asymmetry unlike in wild-type mice

• rostrocaudal brain length in many mice is decreased compared to in wild-type mice

enlarged fourth ventricle ( J:156940 )

• in 2 of 14 mice

enlarged lateral ventricles ( J:156940 )

• in 1 of 14 mice

abnormal cerebral hemisphere morphology ( J:156940 )

• cerebral height in many mice 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 3 of 14 mice

skeleton

premature coronal suture closure ( J:156940 )

• at P0, mice exhibit variation in the pattern and degree of coronal suture closure compared with wild-type mice

• mice exhibit unilateral or bilateral coronal suture synostosis unlike wild-type mice

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

Genotype
MGI:4440856

cn2

• Allelic Composition: Fgfr2^tm2Ewj/Fgfr2⁺; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: B6.Cg-Fgfr2^tm2Ewj Tg(EIIa-cre)C5379Lmgd

Skeletal abnormalities in Fgfr2^tm2Ewj/Fgfr2⁺ Tg(EIIa-cre)C5379Lmgd/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:158773 )

• almost half of all mice die within 24 to 36 hours of birth

• most mice die within 2 weeks of birth with very few surviving to 3 weeks

skeleton

abnormal cranial suture morphology ( J:158773 )

• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice

• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice

abnormal lambdoid suture morphology ( J:158773 )

• with proximate osteogenic fronts and cellular disorganization at P0

abnormal sagittal suture morphology ( J:158773 )

• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice

short basicranium ( J:158773 )

• the anterior and overall length of the cranial base is decreased compared to in wild-type mice

increased cranium height ( J:158773 )

• skull height is increased compared to in wild-type mice

small cranium ( J:158773 )

short mandible ( J:158773 )

abnormal maxillary zygomatic process morphology ( J:158773 )

• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice

short maxilla ( J:158773 )

short nasal bone ( J:158773 )

• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2^tm1Ewj heterozygotes

abnormal zygomatic bone morphology ( J:158773 )

• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice

domed cranium ( J:158773 )

short humerus ( J:158773 )

• at P10

short radius ( J:158773 )

• at P10

short femur ( J:158773 )

• at P10

short tibia ( J:158773 )

• at P10

abnormal sternum morphology ( J:158773 )

• at P0, all mice exhibit bony fusions of the sternum unlike wild-type mice

abnormal skeleton development ( 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

• at E17.5 to P0, the physis hypertrophic zone is disorganized compared to in wild-type mice

enhanced osteoblast differentiation ( J:158773 )

• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

synostosis ( J:158773 )

abnormal skeleton physiology ( J:158773 )

increased osteoblast proliferation ( J:158773 )

• at E19, osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

premature coronal suture closure ( J:158773 )

• mice exhibit unilateral or bilateral coronal synostosis unlike wild-type mice

• at P0, mice exhibit coronal suture presynostosis unlike wild-type mice

craniofacial

abnormal cranial suture morphology ( J:158773 )

• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice

• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice

abnormal lambdoid suture morphology ( J:158773 )

• with proximate osteogenic fronts and cellular disorganization at P0

abnormal sagittal suture morphology ( J:158773 )

• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice

short basicranium ( J:158773 )

• the anterior and overall length of the cranial base is decreased compared to in wild-type mice

increased cranium height ( J:158773 )

• skull height is increased compared to in wild-type mice

small cranium ( J:158773 )

short mandible ( J:158773 )

abnormal maxillary zygomatic process morphology ( J:158773 )

• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice

short maxilla ( J:158773 )

short nasal bone ( J:158773 )

• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2^tm1Ewj heterozygotes

abnormal zygomatic bone morphology ( J:158773 )

• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice

domed cranium ( J:158773 )

abnormal palatal shelf fusion at midline ( J:158773 )

• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice

• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice

• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

decreased palatal length ( J:158773 )

growth/size/body

short nasal bone ( J:158773 )

• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2^tm1Ewj heterozygotes

abnormal palatal shelf fusion at midline ( J:158773 )

• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice

• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice

• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

decreased palatal length ( J:158773 )

decreased body weight ( J:158773 )

• beginning at P5

postnatal growth retardation ( J:158773 )

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:158773 )

• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice

• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice

• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

decreased palatal length ( J:158773 )

limbs/digits/tail

short humerus ( J:158773 )

• at P10

short radius ( J:158773 )

• at P10

short femur ( J:158773 )

• at P10

short tibia ( J:158773 )

• at P10

cellular

enhanced osteoblast differentiation ( J:158773 )

• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

increased osteoblast proliferation ( J:158773 )

• at E19, 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

respiratory system

short nasal bone ( J:158773 )

• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2^tm1Ewj heterozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:158773