Analysis Tools
behavior/neurological
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• mice walk with exaggerated hip movement by 4 weeks of age
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• detected at 4 weeks by footprint analysis
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cellular
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• cells in mutant mice show greatly reduced perlecan secretion in many tissues and organs
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craniofacial
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• skull length-to-width ratio is reduced by 8 weeks compared to wild-type
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growth/size/body
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• mice are show a ~20% reduction in body weight compared to heterozygous and wild-type littermates
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• mice show reduced body length compared to wild-type mice
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immune system
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• osteoclasts appear larger in mutants
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• newborn mice have ~20% more osteoclasts compared to wild-type
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• abnormal morphology of humeri indicates severe osteoarthritis
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limbs/digits/tail
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• humeral head surface is rough at 4 weeks
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• at 8 weeks of age, humeri appear bent
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• at 8 weeks of age, humeri are thick relative to wild-type
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• by 4 weeks of age, proper femoral head and neck structures are absent in mutants, with femoral head region lacking proper consistency and shape compared to wild-type
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• femoral necks in newborns appear short and thick
• by 4 weeks of age, proper femoral neck structures are absent
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• in newborns
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short femur
(
J:121855
)
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• hip structures and femurs are noticeably shorter
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muscle
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• skeletal muscle has very low levels of perlecan due to impaired secretion
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• in 4-week old mice, skeletal muscle appears hyperplastic with more muscle fibers/field than in controls; this is transient because at 8 weeks of age, muscle is indistinguishable from controls
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skeleton
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• abnormal morphology of humeri indicates severe osteoarthritis
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• long bones have only trace levels of perlecan, as cells display reduced perlecan secretion relative to wild-type cells
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• skull length-to-width ratio is reduced by 8 weeks compared to wild-type
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• bones are thickened and irregularly shaped in some mutants
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• humeral head surface is rough at 4 weeks
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• at 8 weeks of age, humeri appear bent
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• by 4 weeks of age, proper femoral head and neck structures are absent in mutants, with femoral head region lacking proper consistency and shape compared to wild-type
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• femoral necks in newborns appear short and thick
• by 4 weeks of age, proper femoral neck structures are absent
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• in newborns
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• central region of growth plate appears hypocellular, with subtle disorganization of proliferative chondrocyte stacking
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• long bones display transiently expanded hypertrophic zone with altered stacking of hypertrophic chondrocytes in growth plates from ~E16.5 through newborn period, with normalization by ~2 weeks; number of hypertrophic cells per area is increased ~30%, with matrix filling the acellular spaces
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• asymmetric atricular cartilage zones at epiphyses appear thinner and are absent in some regions compared to wild-type
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• individual lengths of long bones are reduced compared to wild-type
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short femur
(
J:121855
)
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• hip structures and femurs are noticeably shorter
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• at 8 weeks of age, humeri are thick relative to wild-type
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• rib and sternal elements do not lie in a single plane
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• adult mice have incorrect positioning of innominate bones, bilaterally
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• ossification of the spine is seen in homozygotes
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• at chondro-osseous junction of newborns, distended blood vessels are observed
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• osteoclasts appear larger in mutants
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• newborn mice have ~20% more osteoclasts compared to wild-type
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• bone marrow of long bones appears hypocellular
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• mis-oriented trabecular bones align radial to the longitudinal axis of the long bone
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• establishment of secondary ossifcation centers is delayed
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vision/eye
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• by 8 weeks, mice are observed to have small eyes compared to wild-type controls
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hematopoietic system
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• osteoclasts appear larger in mutants
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• newborn mice have ~20% more osteoclasts compared to wild-type
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Schwartz-Jampel syndrome 1 | DOID:0090005 |
OMIM:255800 |
J:121855 | |
