Phenotypes Associated with This Genotype

Genotype
MGI:6854714

• Allelic Composition: Tmem53^em1Ikeg/Tmem53^em1Ikeg
• Genetic Background: Not Specified

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

growth/size/body

high forehead ( J:306057 )

decreased body height ( J:306057 )

• mice exhibit late-onset short stature

skeleton

abnormal osteoblast physiology ( J:306057 )

• primary calvaria cells show increased osteoblastic activity and calcification upon induction of osteoblast differentiation; bone formation capacity in calvaria cells is increased by BMP2 stimulation and ablated by adding K0228, a selective inhibitor of the BMP type I receptor kinases

abnormal coronal suture morphology ( J:306057 )

• dysmorphic coronal sutures; coronal sutures show an un-straight shape and are asymmetrical

abnormal basicranium morphology ( J:306057 )

• mice show minor sclerosis and hyperostosis of the skull base

optic canal stenosis ( J:306057 )

• the bony fissure through which the optic nerve goes is narrowed

thick neurocranium ( J:306057 )

• mice show thickening of the calvaria

craniofacial hyperostosis ( J:306057 )

• hyperostosis of the skull base

short femur ( J:306057 )

short metatarsal bones ( J:306057 )

abnormal long bone diaphysis morphology ( J:306057 )

• under-constriction or under-modeling of the diaphysis

increased long bone epiphyseal plate size ( J:306057 )

• thickness of the growth plate in femur is increased

platyspondylia ( J:306057 )

• mice exhibit flattened vertebral bodies throughout the axial skeleton

abnormal bone structure ( J:306057 )

• mice show minor sclerosis of the skull base

enhanced osteoblast differentiation ( J:306057 )

• calvaria show enhanced osteoblast differentiation

increased bone ossification ( J:306057 )

• marker analysis indicates increased bone formation in calvaria due to enhanced osteoblast differentiation

• however, mice do not show severe skeletal abnormality at birth

craniofacial

abnormal coronal suture morphology ( J:306057 )

• dysmorphic coronal sutures; coronal sutures show an un-straight shape and are asymmetrical

abnormal basicranium morphology ( J:306057 )

• mice show minor sclerosis and hyperostosis of the skull base

optic canal stenosis ( J:306057 )

• the bony fissure through which the optic nerve goes is narrowed

thick neurocranium ( J:306057 )

• mice show thickening of the calvaria

craniofacial hyperostosis ( J:306057 )

• hyperostosis of the skull base

high forehead ( J:306057 )

limbs/digits/tail

short femur ( J:306057 )

short metatarsal bones ( J:306057 )

short limbs ( J:306057 )

• proportionally short limbs and hands

vision/eye

optic canal stenosis ( J:306057 )

• the bony fissure through which the optic nerve goes is narrowed

ocular hypertelorism ( J:306057 )

cellular

enhanced osteoblast differentiation ( J:306057 )

• calvaria show enhanced osteoblast differentiation

abnormal osteoblast physiology ( J:306057 )

• primary calvaria cells show increased osteoblastic activity and calcification upon induction of osteoblast differentiation; bone formation capacity in calvaria cells is increased by BMP2 stimulation and ablated by adding K0228, a selective inhibitor of the BMP type I receptor kinases

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
craniotubular dysplasia Ikegawa type		DOID:0112340	OMIM:619727	J:306057