Analysis Tools
mortality/aging
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• few mutants survive beyond 5 months of age
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growth/size/body
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• the calcified materials surrounding the neck and tooth of all 12 molars is increased
• the neck thickness relative to the enamel cap width is increased
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• at 12 weeks, enlargement of the cementum
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• lower body weight, first noticeable between 10 and 20 days of age
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reproductive system
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• do not produce more than two litters
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• do not produce more than two litters
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skeleton
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• histology of the digit joints shows narrowing of the joint spaces, erosion of cartilage, accumulation of debris, and ectopic calcification
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• progressive ankylosis
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• the calcified materials surrounding the neck and tooth of all 12 molars is increased
• the neck thickness relative to the enamel cap width is increased
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• at 12 weeks, enlargement of the cementum
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• metaphyseal trabeculae reduced in both thickness and number
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• some of the sesamoid bones are enlarged and appear to be fused with the nearest long bone
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• degeneration in many, although not all, tendons associated with affected joints
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• some calcification in the tendons around the shoulder joint at 11 weeks of age
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• degeneration and increase in calcification in the cartilage
(J:6580)
• cartilage erosion
(J:63420)
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• mutants develop a noninflammatory degenerative joint disease, with stiffness of joints starting in forefeet and toes, quickly spreading to other joints
(J:6580)
• mutants show increased numbers of osteoblast-like cells in the synovial membrane of joints and excessive amount of fibrous tissue, cartilage, and bone in joints at later stages, with many areas of cystic necrosis
(J:6580)
• synovial lining in most places, except over articular cartilage or ligament, has a thickened surface layer
(J:6580)
• necrosis in the fibrous tissue of the joints, including the ligaments and cartilage
(J:6580)
• joint space narrowing, accumulation of debris in the joint space, and ectopic calcification in and around the affected joints
(J:63420)
• bone volume in joints is significantly increased and increases in severity with time
(J:122727)
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• calcification of the transverse acetabular ligament, which bridges the acetabular notch of the hip, is seen at 17 weeks of age
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• reduction in the size of the joint cavities in the forefoot at 33 days of age, with excessive osteoblasts
• the joint cavity of the shoulder appears shrunken and opaque, with some calcification in the tendons around the joint at 11 weeks of age
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• abnormal and increased calcification within some of the joints (knee, elbow, vertebral column) and joint cavities, resulting in calcified masses at various places near joints
(J:6580)
• ectopic calcification in and around the affected joints
(J:63420)
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fused joints
(
J:6580
)
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• progressive akylosis, such that by 17 weeks of age, the joints of the foot, including the wrist, and of the ribs with adjacent sternebrae are completely ankylosed
• fore and hind feet at 31 weeks of age have toe bones that show bony and cartilaginous fusions across the joints, usually including the sesamoid bones
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• degeneration in many, although not all, ligaments associated with affected joints
• calcification of the transverse acetabular ligament, which bridges the acetabular notch of the hip, is seen at 17 weeks of age
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• progressive loss of mobility of the joints occurs with age; stiffening of the joints is first apparent at 4-5 weeks of age in the forefeet and eventually involves all the joints of the limbs and vertebral column
(J:6580)
• when lifted by the tail from a wire grid, 4.5-5 week old mutants are unable to cling to the grid as the toes are very rigid
(J:6580)
• wean age homozygotes are unable to grasp a wire cage tope due to stiffness in the digits
(J:63420)
• joint mobility is decreased at 6 weeks and is more severe at 12 weeks similar to in Anktm1.1Kng homozygotes
(J:122727)
• reduction in joint mobility in the forelimb joints are more severe than in the hindlimbs and distal joint in the hindlimbs are more severely affected than proximal joints
(J:122727)
• stiffness of joints observed at 4-5 weeks of age
(J:168526)
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muscle
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• degeneration in many, although not all, tendons associated with affected joints
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• some calcification in the tendons around the shoulder joint at 11 weeks of age
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craniofacial
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• the calcified materials surrounding the neck and tooth of all 12 molars is increased
• the neck thickness relative to the enamel cap width is increased
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• at 12 weeks, enlargement of the cementum
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behavior/neurological
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• unable to grab cage bars at 4-5 weeks of age
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• adults exhibit a rigid posture
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abnormal gait
(
J:6580
)
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• slow halting gait, with all feet flat against the surface
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limbs/digits/tail
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• in the limbs, abnormalities are more severe in the distal than proximal joints and in the forelimbs than in the hindlimbs
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• toes of the forefeet are stiff and flattened at 33 and 35 days of age, while these abnormalities occur later in the hindfeet (11-17 weeks of age)
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• calcification of the transverse acetabular ligament, which bridges the acetabular notch of the hip, is seen at 17 weeks of age
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• metaphyseal trabeculae reduced in both thickness and number
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• some of the sesamoid bones are enlarged and appear to be fused with the nearest long bone
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homeostasis/metabolism
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• primary skin fibroblast cultures show an increase in intracellular and a decrease in extracellular pyrophosphate indicative of defective phosphate homeostatis, and this defect is corrected by transfection with wildtype Ank
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immune system
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• histology of the digit joints shows narrowing of the joint spaces, erosion of cartilage, accumulation of debris, and ectopic calcification
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