Phenotypes associated with this allele

• Allele Symbol: Fgfr2^tm2Cxd
• Allele Name: targeted mutation 2, Chu-Xia Deng
• Allele ID: MGI:3604072
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fgfr2^tm2Cxd/Fgfr2^+ Tg(EIIa-cre)C5379Lmgd/0	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:5790180
cn2	Fgfr2^tm2Cxd/Fgfr2^+ Tg(EIIa-cre)C5379Lmgd/0	involves: 129S6/SvEvTac * FVB/N	MGI:3604078

Genotype
MGI:5790180

cn1

• Allelic Composition: Fgfr2^tm2Cxd/Fgfr2⁺; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

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

craniofacial

wide intermaxillary suture ( J:228708 )

• widening of the intermaxillary suture

abnormal presphenoid bone morphology ( J:228708 )

• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone

abnormal zygomatic arch morphology ( J:228708 )

• fusion of the zygomatic arch at P0

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

abnormal palatine bone morphology ( J:228708 )

• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture

• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance

domed cranium ( J:228708 )

midface hypoplasia ( J:228708 )

growth/size/body

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

midface hypoplasia ( J:228708 )

skeleton

wide intermaxillary suture ( J:228708 )

• widening of the intermaxillary suture

abnormal presphenoid bone morphology ( J:228708 )

• increase in cartilaginous appearance of the presphenoid bone indicating reduced ossification of this bone

abnormal zygomatic arch morphology ( J:228708 )

• fusion of the zygomatic arch at P0

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

abnormal palatine bone morphology ( J:228708 )

• severe palatal bone dysplasia at P0 associated with a widening of the intermaxillary suture

• dysplasia of the palatine bone involves anterior curvature of the vertical processes and an overall porous appearance

domed cranium ( J:228708 )

abnormal trabecular bone morphology ( J:228708 )

• poor cancellous bone formation of the cranial base

premature coronal suture closure ( J:228708 )

• fusion of the coronal suture at P0

premature facial suture closure ( J:228708 )

• facial suture synostosis at P0, with fusion of the premaxillary-maxillary, nasal-frontal, and maxillary-palatine sutures

premature maxillary-premaxillary suture closure ( J:228708 )

• fusion of the premaxillary-maxillary suture at P0

premature palatomaxillary suture closure ( J:228708 )

• fusion of the maxillary-palatine suture at P0

premature frontonasal suture closure ( J:228708 )

• fusion of the nasal-frontal suture at P0

respiratory system

short nasal bone ( J:228708 )

• foreshortening of the nasal bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:228708

Genotype
MGI:3604078

cn2

• Allelic Composition: Fgfr2^tm2Cxd/Fgfr2⁺; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

mortality/aging

postnatal lethality, incomplete penetrance ( J:101385 )

• mutants with severe cranial abnormalities die within 20 days of birth, less severely affected mutants survive to adulthood

growth/size/body

malocclusion ( J:101385 )

midface hypoplasia ( J:101385 )

• midface hypoplasia

decreased embryo size ( J:101385 )

• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

skeleton

abnormal cranium morphology ( J:101385 )

• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen

abnormal cranial suture morphology ( J:101385 )

• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures

abnormal sagittal suture morphology ( J:101385 )

• development of the sagittal suture is slightly delayed

decreased cranium height ( J:101385 )

• significant shortening of the anterior-posterior axis

abnormal neurocranium morphology ( J:101385 )

• calvarial bone formation is decreased

thin frontal bone ( J:101385 )

• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen

thin parietal bone ( J:101385 )

• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen

short presphenoid bone ( J:101385 )

• the presphenoid bone is significantly shorter

malocclusion ( J:101385 )

domed cranium ( J:101385 )

abnormal long bone epiphyseal plate proliferative zone ( J:101385 )

• after P10 some mutants have slightly shorter columns of proliferating chondrocytes

premature cranial suture closure ( J:101385 )

• craniosynostosis is most pronounced in the coronal suture

premature coronal suture closure ( J:101385 )

• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth

vision/eye

ocular hypertelorism ( J:101385 )

reproductive system

female infertility ( J:101385 )

♀ • all surviving females are sterile

reduced male fertility ( J:101385 )

♂ • only 1 male generated 2 litters when mated with a wild-type female

craniofacial

abnormal craniofacial morphology ( J:101385 )

• cranial abnormalities vary in severity and the severely affected mutants die postnatally

abnormal cranium morphology ( J:101385 )

• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen

abnormal cranial suture morphology ( J:101385 )

• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures

abnormal sagittal suture morphology ( J:101385 )

• development of the sagittal suture is slightly delayed

decreased cranium height ( J:101385 )

• significant shortening of the anterior-posterior axis

abnormal neurocranium morphology ( J:101385 )

• calvarial bone formation is decreased

thin frontal bone ( J:101385 )

• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen

thin parietal bone ( J:101385 )

• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen

short presphenoid bone ( J:101385 )

• the presphenoid bone is significantly shorter

malocclusion ( J:101385 )

domed cranium ( J:101385 )

midface hypoplasia ( J:101385 )

• midface hypoplasia

embryo

decreased embryo size ( J:101385 )

• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:101385