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Phenotypes Associated with This Genotype
Genotype
MGI:3713118
Allelic
Composition
Hspg2tm1Rdgr/Hspg2tm1Rdgr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1Rdgr mutation (0 available); any Hspg2 mutation (212 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice walk with exaggerated hip movement by 4 weeks of age
• detected at 4 weeks by footprint analysis

cellular
• cells in mutant mice show greatly reduced perlecan secretion in many tissues and organs

craniofacial
• skull length-to-width ratio is reduced by 8 weeks compared to wild-type
• by 8 weeks, mice are observed to have a flat face compared to controls

growth/size/body
• by 8 weeks, mice are observed to have a flat face compared to controls
• mice are show a ~20% reduction in body weight compared to heterozygous and wild-type littermates
• mice show reduced body length compared to wild-type mice

immune system
• osteoclasts appear larger in mutants
• newborn mice have ~20% more osteoclasts compared to wild-type
• abnormal morphology of humeri indicates severe osteoarthritis

limbs/digits/tail
• humeral head surface is rough at 4 weeks
• at 8 weeks of age, humeri appear bent
• at 8 weeks of age, humeri are thick relative to wild-type
• femoral necks in newborns appear short and thick
• 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
• hip structures and femurs are noticeably shorter

muscle
• skeletal muscle has very low levels of perlecan due to impaired secretion
• 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

skeleton
• abnormal morphology of humeri indicates severe osteoarthritis
• long bones have only trace levels of perlecan, as cells display reduced perlecan secretion relative to wild-type cells
• skull length-to-width ratio is reduced by 8 weeks compared to wild-type
• bones are thickened and irregularly shaped in some mutants
• humeral head surface is rough at 4 weeks
• at 8 weeks of age, humeri appear bent
• femoral necks in newborns appear short and thick
• 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
• central region of growth plate appears hypocellular, with subtle disorganization of proliferative chondrocyte stacking
• 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
• asymmetric atricular cartilage zones at epiphyses appear thinner and are absent in some regions compared to wild-type
• individual lengths of long bones are reduced compared to wild-type
• hip structures and femurs are noticeably shorter
• at 8 weeks of age, humeri are thick relative to wild-type
• rib and sternal elements do not lie in a single plane
• adult mice have incorrect positioning of innominate bones, bilaterally
• ossification of the spine is seen in homozygotes
• at chondro-osseous junction of newborns, distended blood vessels are observed
• osteoclasts appear larger in mutants
• newborn mice have ~20% more osteoclasts compared to wild-type
• bone marrow of long bones appears hypocellular
• mis-oriented trabecular bones align radial to the longitudinal axis of the long bone
• establishment of secondary ossifcation centers is delayed

vision/eye
• by 8 weeks, mice are observed to have small eyes compared to wild-type controls

hematopoietic system
• osteoclasts appear larger in mutants
• newborn mice have ~20% more osteoclasts compared to wild-type

Mouse Models of Human Disease
OMIM ID Ref(s)
Schwartz-Jampel Syndrome, Type 1; SJS1 255800 J:121855


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory