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Phenotypes Associated with This Genotype
Genotype
MGI:4889220
Allelic
Composition
Anktm1.1Ejr/Anktm1.1Ejr
Genetic
Background
B6.129-Anktm1.1Ejr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Anktm1.1Ejr mutation (0 available); any Ank mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die around 6 months of age (J:168526)
• die around 6 months of age (J:168526)

skeleton
• hyperosteosis at 3 months of age, particularly the cranial base and mandible (J:168526)
• narrowing of the cranial neural foramina (J:168526)
• hyperosteosis at 3 months of age, particularly the cranial base and mandible (J:168526)
• narrowing of the cranial neural foramina (J:168526)
• thickened calvaria (J:168526)
• thickened calvaria (J:168526)
• foramen magnum is reduced in all dimensions (J:168526)
• foramen magnum is reduced in all dimensions (J:168526)
• hyperosteosis (J:168526)
• mandible bone mass significantly increased (J:168526)
• hyperosteosis (J:168526)
• mandible bone mass significantly increased (J:168526)
• fused to malleus (J:168526)
• fused to malleus (J:168526)
• fused to incus (J:168526)
• fused to incus (J:168526)
• club shaped femurs (J:168526)
• increased radiolucency of metaphyses (J:168526)
• increased porosity (J:168526)
• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis (J:168526)
• mineral content of central cortical bone is reduced (J:168526)
• club shaped femurs (J:168526)
• increased radiolucency of metaphyses (J:168526)
• increased porosity (J:168526)
• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis (J:168526)
• mineral content of central cortical bone is reduced (J:168526)
• increased diameter of the cortical bone (J:168526)
• increased diameter of the cortical bone (J:168526)
• small but significant decrease in femur length relative to controls at 10 weeks of age (J:168526)
• small but significant decrease in femur length relative to controls at 10 weeks of age (J:168526)
• fewer osteoclasts are formed during in vitro differentiation (J:168526)
• fewer osteoclasts are formed during in vitro differentiation (J:168526)
• increased bone mineral content as determined by densitometry (J:168526)
• ash weight is lower than controls (J:168526)
• increased bone mineral content as determined by densitometry (J:168526)
• ash weight is lower than controls (J:168526)
• increased radiopacity of skulls and mandibles measured at 1, 3, and 6 months of age (J:168526)
• increased bone mineral density as determined by densitometry (J:168526)
• increase in bone mineral density of the femur is not significant (J:168526)
• increased radiopacity of skulls and mandibles measured at 1, 3, and 6 months of age (J:168526)
• increased bone mineral density as determined by densitometry (J:168526)
• increase in bone mineral density of the femur is not significant (J:168526)
• stiffness of joints observed at 4-5 weeks of age (J:168526)
• stiffness of joints observed at 4-5 weeks of age (J:168526)

homeostasis/metabolism
• increased circulating levels of acid phosphatase 5, tartrate resistant (TRACP) at 10 weeks of age (J:168526)
• increased circulating levels of acid phosphatase 5, tartrate resistant (TRACP) at 10 weeks of age (J:168526)
• at 10 weeks of age (J:168526)
• at 10 weeks of age (J:168526)

growth/size/body
• obliterated nasal sinuses (J:168526)
• obliterated nasal sinuses (J:168526)
• weight after weaning is less than for control mice (J:168526)
• weight after weaning is less than for control mice (J:168526)
• shorter body length than for control and heterozygous mice (J:168526)
• shorter body length than for control and heterozygous mice (J:168526)

craniofacial
• hyperosteosis at 3 months of age, particularly the cranial base and mandible (J:168526)
• narrowing of the cranial neural foramina (J:168526)
• hyperosteosis at 3 months of age, particularly the cranial base and mandible (J:168526)
• narrowing of the cranial neural foramina (J:168526)
• thickened calvaria (J:168526)
• thickened calvaria (J:168526)
• foramen magnum is reduced in all dimensions (J:168526)
• foramen magnum is reduced in all dimensions (J:168526)
• hyperosteosis (J:168526)
• mandible bone mass significantly increased (J:168526)
• hyperosteosis (J:168526)
• mandible bone mass significantly increased (J:168526)
• fused to malleus (J:168526)
• fused to malleus (J:168526)
• fused to incus (J:168526)
• fused to incus (J:168526)
• obliterated nasal sinuses (J:168526)
• obliterated nasal sinuses (J:168526)

behavior/neurological
• unable to grab cage bars at 4-5 weeks of age (J:168526)
• unable to grab cage bars at 4-5 weeks of age (J:168526)

hearing/vestibular/ear
• fused to malleus (J:168526)
• fused to malleus (J:168526)
• fused to incus (J:168526)
• fused to incus (J:168526)

limbs/digits/tail
• club shaped femurs (J:168526)
• increased radiolucency of metaphyses (J:168526)
• increased porosity (J:168526)
• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis (J:168526)
• mineral content of central cortical bone is reduced (J:168526)
• club shaped femurs (J:168526)
• increased radiolucency of metaphyses (J:168526)
• increased porosity (J:168526)
• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis (J:168526)
• mineral content of central cortical bone is reduced (J:168526)
• increased diameter of the cortical bone (J:168526)
• increased diameter of the cortical bone (J:168526)
• small but significant decrease in femur length relative to controls at 10 weeks of age (J:168526)
• small but significant decrease in femur length relative to controls at 10 weeks of age (J:168526)

hematopoietic system
• fewer osteoclasts are formed during in vitro differentiation (J:168526)
• fewer osteoclasts are formed during in vitro differentiation (J:168526)

immune system
• fewer osteoclasts are formed during in vitro differentiation (J:168526)
• fewer osteoclasts are formed during in vitro differentiation (J:168526)

respiratory system
• obliterated nasal sinuses (J:168526)
• obliterated nasal sinuses (J:168526)

cellular
• fewer osteoclasts are formed during in vitro differentiation (J:168526)
• fewer osteoclasts are formed during in vitro differentiation (J:168526)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory