Phenotypes Associated with This Genotype

Genotype
MGI:3580015

• Allelic Composition: Axin2^tm1Wbm/Axin2^tm1Wbm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

cellular

enhanced osteoblast differentiation ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

abnormal osteoblast physiology ( J:98523 )

• primary calvarial osteoblasts isolated from nasal/frontal bones exhibited enhanced formation of mineralized nodules when induced to differentiate

increased osteoblast proliferation ( J:98523 )

• enhanced proliferation of osteoblast precursors in the developing metopic suture and of isolated primary osteoblasts from nasal/frontal bones (cranial neural crest derived) but not from parietal bones (mesoderm-derived)

craniofacial

abnormal cranium morphology ( J:98523 )

• adult skulls became abnormally structured and shaped due to premature suture closure

absent jugum limitans ( J:98523 )

• the jugum limitans is often missing

decreased cranium height ( J:98523 )

abnormal neurocranium morphology ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

shortened head ( J:98523 )

• reduced growth of the head, obvious within 3 weeks after birth

skeleton

abnormal osteoblast physiology ( J:98523 )

• primary calvarial osteoblasts isolated from nasal/frontal bones exhibited enhanced formation of mineralized nodules when induced to differentiate

increased osteoblast proliferation ( J:98523 )

• enhanced proliferation of osteoblast precursors in the developing metopic suture and of isolated primary osteoblasts from nasal/frontal bones (cranial neural crest derived) but not from parietal bones (mesoderm-derived)

abnormal cranium morphology ( J:98523 )

• adult skulls became abnormally structured and shaped due to premature suture closure

absent jugum limitans ( J:98523 )

• the jugum limitans is often missing

decreased cranium height ( J:98523 )

abnormal neurocranium morphology ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

abnormal skeleton development ( J:98523 )

• accelerated skeletogenesis

enhanced osteoblast differentiation ( J:98523 )

• enhanced osteoblast differentiation predominantly in the anterior calvarium

premature intramembranous bone ossification ( J:98523 )

• in the skull

premature metopic suture closure ( J:98523 )

• premature closure of the metopic suture, with the suture remaining patent at birth but fused by P8

vision/eye

abnormal eye morphology ( J:98523 )

• requently exhibited eye abnormalities

growth/size/body

shortened head ( J:98523 )

• reduced growth of the head, obvious within 3 weeks after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
craniosynostosis		DOID:2340	OMIM:123100 OMIM:182212 OMIM:600593 OMIM:600775 OMIM:604757 OMIM:615314	J:98523