Phenotypes Associated with This Genotype

Genotype
MGI:4889220

• Allelic Composition: Ank^tm1.1Ejr/Ank^tm1.1Ejr
• Genetic Background: B6.129-Ank^tm1.1Ejr

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

mortality/aging

premature death ( J:168526 )

• die around 6 months of age

skeleton

abnormal skeleton morphology ( J:168526 )

abnormal cranial foramen morphology ( J:168526 )

• narrowing of the cranial neural foramina

abnormal foramen magnum morphology ( J:168526 )

• foramen magnum is reduced in all dimensions

thick neurocranium ( J:168526 )

• thickened calvaria

abnormal middle ear ossicle morphology ( J:168526 )

incudomalleolar fusion ( J:168526 )

• incus is fused to the malleus

abnormal femur morphology ( J:168526 )

• increased radiolucency of metaphyses

• increased porosity

• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis

• mineral content of central cortical bone is reduced

club-shaped femur ( J:168526 )

• club shaped femurs

short femur ( J:168526 )

• small but significant decrease in femur length relative to controls at 10 weeks of age

increased diameter of femur ( J:168526 )

• increased diameter of the cortical bone

abnormal bone structure ( J:168526 )

abnormal osteoclast differentiation ( J:168526 )

• fewer osteoclasts are formed during in vitro differentiation

increased bone mineral content ( J:168526 )

• increased bone mineral content as determined by densitometry

• ash weight is lower than controls

increased bone mineral density ( J:168526 )

• increased radiopacity of skulls and mandibles measured at 1, 3, and 6 months of age

• increased bone mineral density as determined by densitometry

• increase in bone mineral density of the femur is not significant

hyperostosis ( J:168526 )

• hyperosteosis at 3 months of age, particularly the cranial base and mandible

craniofacial hyperostosis ( J:168526 )

• hyperosteosis at 3 months of age, particularly the cranial base and mandible

mandibular hyperostosis ( J:168526 )

• hyperosteosis of the mandible

• mandible bone mass significantly increased

decreased joint mobility ( J:168526 )

• stiffness of joints observed at 4-5 weeks of age

homeostasis/metabolism

abnormal circulating enzyme level ( J:168526 )

• increased circulating levels of acid phosphatase 5, tartrate resistant (TRACP) at 10 weeks of age

increased circulating alkaline phosphatase level ( J:168526 )

• at 10 weeks of age

growth/size/body

absent paranasal sinus ( J:168526 )

• obliterated nasal sinuses

decreased body weight ( J:168526 )

• weight after weaning is less than for control mice

decreased body length ( J:168526 )

• shorter body length than for control and heterozygous mice

craniofacial

abnormal cranial foramen morphology ( J:168526 )

• narrowing of the cranial neural foramina

abnormal foramen magnum morphology ( J:168526 )

• foramen magnum is reduced in all dimensions

thick neurocranium ( J:168526 )

• thickened calvaria

abnormal middle ear ossicle morphology ( J:168526 )

incudomalleolar fusion ( J:168526 )

• incus is fused to the malleus

craniofacial hyperostosis ( J:168526 )

• hyperosteosis at 3 months of age, particularly the cranial base and mandible

mandibular hyperostosis ( J:168526 )

• hyperosteosis of the mandible

• mandible bone mass significantly increased

absent paranasal sinus ( J:168526 )

• obliterated nasal sinuses

behavior/neurological

decreased grip strength ( J:168526 )

• unable to grab cage bars at 4-5 weeks of age

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:168526 )

incudomalleolar fusion ( J:168526 )

• incus is fused to the malleus

limbs/digits/tail

abnormal femur morphology ( J:168526 )

• increased radiolucency of metaphyses

• increased porosity

• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis

• mineral content of central cortical bone is reduced

club-shaped femur ( J:168526 )

• club shaped femurs

short femur ( J:168526 )

• small but significant decrease in femur length relative to controls at 10 weeks of age

increased diameter of femur ( J:168526 )

• increased diameter of the cortical bone

hematopoietic system

abnormal osteoclast differentiation ( J:168526 )

• fewer osteoclasts are formed during in vitro differentiation

immune system

abnormal osteoclast differentiation ( J:168526 )

• fewer osteoclasts are formed during in vitro differentiation

respiratory system

absent paranasal sinus ( J:168526 )

• obliterated nasal sinuses

cellular

abnormal osteoclast differentiation ( J:168526 )

• fewer osteoclasts are formed during in vitro differentiation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
craniometaphyseal dysplasia		DOID:0080033	OMIM:PS123000	J:168526