Phenotypes Associated with This Genotype

Genotype
MGI:6415627

• Allelic Composition: Fgfr2^tm3Cxd/Fgfr2⁺; Tg(Col2a1-cre)1Xya/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

craniofacial

abnormal cranium morphology ( J:286452 )

• 8-week old skulls show less malformation than 4-week old skulls

• the distance of the paired anterior zygoma is increased by 11.2% and 5.4% in 4- and 8-week old mice, respectively

• the distance between two lacrimal bones is increased by 9.4% in 4-week old mice and shows no changes in 8-week old mice

• the linear distances between the intersection of interparietal and occipital bones at the midline and the posterior palate are decreased 6.4% and 6.6% in 4- and 8-week old mice, respectively

wide metopic suture ( J:286452 )

wide sagittal suture ( J:286452 )

abnormal basicranium morphology ( J:286452 )

• mice show growth disturbance in the cranial base by P14

premature presphenoid synchondrosis closure ( J:286452 )

abnormal sphenooccipital synchondrosis ( J:286452 )

• P3 mice show shortened sphenooccipital synchondroses

premature sphenooccipital synchondrosis closure ( J:286452 )

abnormal cranial cavity morphology ( J:286452 )

• 4-week old mice show rostrocaudally shortened, but dorsoventrally increased cranial cavity, indicating a dorsoventrally increased and rostrocaudally shortened brain

decreased cranium length ( J:286452 )

• shortened skull length at 4 weeks of age

• approximately 58% linear distances in the cranium are shortened by over 5%, 33% distances exhibit less than 5% shortening, and 9% distances show over 5% increases in 4-week old mice

abnormal neurocranium morphology ( J:286452 )

• the length of the lateral neurocranium is decreased 10.2% and the width of the caudal neurocranium is increased by 5.5% in 4-week old mice

• the neurocranium is not reduced along the rostro-caudal axis and has no change along the medial-lateral axis in 8-week old mice

abnormal basioccipital bone morphology ( J:286452 )

• shortened basioccipital bone

abnormal basisphenoid bone morphology ( J:286452 )

• shortened basisphenoid bone

abnormal frontal bone morphology ( J:286452 )

• the breadth of the frontal bone is mildly increased by 5.4% in 4-week old mice

• the breadth of frontal bone shows no changes in 8-week old mice

short frontal bone ( J:286452 )

• the length of the frontal bone is mildly decreased by 5.9% in 4-week old mice

short zygomatic arch ( J:286452 )

shallow orbits ( J:286452 )

abnormal maxillary frontal process morphology ( J:286452 )

• frontal processes of the maxilla are shortened by 13.9% in 4-week old mice

• frontal processes of the maxilla are shortened by 9.2% in 8-week old mice

• the parietal frontal process of the maxilla is decreased by 7.2% in 8-week old mice

short premaxilla ( J:286452 )

• the premaxilla length is decreased by 9.3% in 4-week old mice

• the premaxilla length is reduced 11.2% in 8-week old mice

short maxilla ( J:286452 )

• maxilla length is decreased by 7.5% in 4-week old mice

• maxilla length is decreased by 8.7% in 8-week old mice

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

short zygomatic bone ( J:286452 )

• the zygomatic bone is shortened by 21.2% in 4-week old mice

• zygomatic bone is shortened by 9.3% in 8-week old mice

abnormal midface morphology ( J:286452 )

• 8-week old mice show a less severe midfacial shape than 4-week old mice

growth/size/body

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

abnormal midface morphology ( J:286452 )

• 8-week old mice show a less severe midfacial shape than 4-week old mice

skeleton

abnormal cranium morphology ( J:286452 )

• 8-week old skulls show less malformation than 4-week old skulls

• the distance of the paired anterior zygoma is increased by 11.2% and 5.4% in 4- and 8-week old mice, respectively

• the distance between two lacrimal bones is increased by 9.4% in 4-week old mice and shows no changes in 8-week old mice

• the linear distances between the intersection of interparietal and occipital bones at the midline and the posterior palate are decreased 6.4% and 6.6% in 4- and 8-week old mice, respectively

wide metopic suture ( J:286452 )

wide sagittal suture ( J:286452 )

abnormal basicranium morphology ( J:286452 )

• mice show growth disturbance in the cranial base by P14

premature presphenoid synchondrosis closure ( J:286452 )

abnormal sphenooccipital synchondrosis ( J:286452 )

• P3 mice show shortened sphenooccipital synchondroses

premature sphenooccipital synchondrosis closure ( J:286452 )

abnormal cranial cavity morphology ( J:286452 )

• 4-week old mice show rostrocaudally shortened, but dorsoventrally increased cranial cavity, indicating a dorsoventrally increased and rostrocaudally shortened brain

decreased cranium length ( J:286452 )

• shortened skull length at 4 weeks of age

• approximately 58% linear distances in the cranium are shortened by over 5%, 33% distances exhibit less than 5% shortening, and 9% distances show over 5% increases in 4-week old mice

abnormal neurocranium morphology ( J:286452 )

• the length of the lateral neurocranium is decreased 10.2% and the width of the caudal neurocranium is increased by 5.5% in 4-week old mice

• the neurocranium is not reduced along the rostro-caudal axis and has no change along the medial-lateral axis in 8-week old mice

abnormal basioccipital bone morphology ( J:286452 )

• shortened basioccipital bone

abnormal basisphenoid bone morphology ( J:286452 )

• shortened basisphenoid bone

abnormal frontal bone morphology ( J:286452 )

• the breadth of the frontal bone is mildly increased by 5.4% in 4-week old mice

• the breadth of frontal bone shows no changes in 8-week old mice

short frontal bone ( J:286452 )

• the length of the frontal bone is mildly decreased by 5.9% in 4-week old mice

short zygomatic arch ( J:286452 )

shallow orbits ( J:286452 )

abnormal maxillary frontal process morphology ( J:286452 )

• frontal processes of the maxilla are shortened by 13.9% in 4-week old mice

• frontal processes of the maxilla are shortened by 9.2% in 8-week old mice

• the parietal frontal process of the maxilla is decreased by 7.2% in 8-week old mice

short premaxilla ( J:286452 )

• the premaxilla length is decreased by 9.3% in 4-week old mice

• the premaxilla length is reduced 11.2% in 8-week old mice

short maxilla ( J:286452 )

• maxilla length is decreased by 7.5% in 4-week old mice

• maxilla length is decreased by 8.7% in 8-week old mice

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

short zygomatic bone ( J:286452 )

• the zygomatic bone is shortened by 21.2% in 4-week old mice

• zygomatic bone is shortened by 9.3% in 8-week old mice

decreased bone volume ( J:286452 )

• bone volume is decreased in calvarial bone due to the rostrocaudally shortened skull, but not change in bone volume ratio is seen

premature coronal suture closure ( J:286452 )

• premature closure of coronal sutures in P3 mice

vision/eye

shallow orbits ( J:286452 )

ocular hypertelorism ( J:286452 )

respiratory system

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:286452