Mouse Genome Informatics
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    Anktm1.1Ejr/Anktm1.1Ejr
B6.129-Anktm1.1Ejr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die around 6 months of age

skeleton
• hyperosteosis at 3 months of age, particularly the cranial base and mandible
• narrowing of the cranial neural foramina
• thickened calvaria
• foramen magnum is reduced in all dimensions
• hyperosteosis
• mandible bone mass significantly increased
• fused to malleus
• fused to incus
• club shaped femurs
• 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
• increased diameter of the cortical bone
• small but significant decrease in femur length relative to controls at 10 weeks of age
• fewer osteoclasts are formed during in vitro differentiation
• increased bone mineral content as determined by densitometry
• ash weight is lower than controls
• 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
• stiffness of joints observed at 4-5 weeks of age

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

growth/size/body
• obliterated nasal sinuses
• weight after weaning is less than for control mice
• shorter body length than for control and heterozygous mice

craniofacial
• hyperosteosis at 3 months of age, particularly the cranial base and mandible
• narrowing of the cranial neural foramina
• thickened calvaria
• foramen magnum is reduced in all dimensions
• hyperosteosis
• mandible bone mass significantly increased
• fused to malleus
• fused to incus
• obliterated nasal sinuses

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

hearing/vestibular/ear
• fused to malleus
• fused to incus

limbs/digits/tail
• club shaped femurs
• 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
• increased diameter of the cortical bone
• small but significant decrease in femur length relative to controls at 10 weeks of age

hematopoietic system
• fewer osteoclasts are formed during in vitro differentiation

immune system
• fewer osteoclasts are formed during in vitro differentiation

respiratory system
• obliterated nasal sinuses

cellular
• fewer osteoclasts are formed during in vitro differentiation

Mouse Models of Human Disease
OMIM IDRef(s)
Craniometaphyseal Dysplasia, Autosomal Dominant; CMDD 123000 J:168526