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Phenotypes Associated with This Genotype
Genotype
MGI:2178957
Allelic
Composition
Hspg2tm1Ref/Hspg2tm1Ref
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1Ref mutation (0 available); any Hspg2 mutation (134 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Hemopericardium development in E10.5 Hspg2tm1Ref/Hspg2tm1Ref embryos

mortality/aging
• 20-30% die perinatally with severe brain and skeletal defects (J:58700)
• 20-30% die perinatally with severe brain and skeletal defects (J:58700)
• 70-80% die between E10.5 and E12.5 with heart defects (J:58700)
• 70-80% die between E10.5 and E12.5 with heart defects (J:58700)

growth/size/body
• thorax is narrowed (J:84739)
• thorax is narrowed (J:84739)
• trunk is shortened (J:84739)
• trunk is shortened (J:84739)

embryogenesis

limbs/digits/tail

skeleton
• homozygotes that survive past the E10.5-E12.5 stage develop the following skeletal abnormalities: (J:58700)
• homozygotes that survive past the E10.5-E12.5 stage develop the following skeletal abnormalities: (J:58700)
• bones of the chondrocranium (occipital, sphenoidal, and ethmoidal) are shortened and undermineralized (J:58700)
• bones of the chondrocranium (occipital, sphenoidal, and ethmoidal) are shortened and undermineralized (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• shorter nasal bone (J:58700)
• shorter nasal bone (J:58700)
• homozygotes without exencephaly have a domed skull (J:58700)
• homozygotes without exencephaly have a domed skull (J:58700)
• bony trabecula are oriented transversely to the long axis (J:58700)
• bony trabecula are oriented transversely to the long axis (J:58700)
• greatly shortened (J:84739)
• greatly shortened (J:84739)
• long bones are about half the size of wild-type and have a bended shape (J:58700)
• long bones are about half the size of wild-type and have a bended shape (J:58700)
• size and shape of ribs are abnormal (J:84739)
• size and shape of ribs are abnormal (J:84739)
• abnormally bent vertebral column (J:58700)
• abnormally bent vertebral column (J:58700)
• vertebral bodies are increased in size and have an abnormal shape (J:84739)
• vertebral bodies are increased in size and have an abnormal shape (J:84739)
• bones have small marrow cavities (J:58700)
• bones have small marrow cavities (J:58700)
• cortical bone is thickened (J:58700)
• cortical bone is thickened (J:58700)
• growth plates are dissociated from their epiphses (J:58700)
• growth plate cartilage lacks a collagen network and has shorter collagen fibrils (J:58700)
• growth plates are dissociated from their epiphses (J:58700)
• growth plate cartilage lacks a collagen network and has shorter collagen fibrils (J:58700)
• epiphyseal cartilages are enlarged and frequently contain holes or cracks, especially in the hypertrophic and prehypertrophic zones (J:84739)
• epiphyseal cartilages are enlarged and frequently contain holes or cracks, especially in the hypertrophic and prehypertrophic zones (J:84739)
• hypertrophic chondrocytes have an atypical morphology (J:58700)
• hypertrophic chondrocytes have an atypical morphology (J:58700)
• disorganized growth plates characterized by absence of the typical columnar arrangement of hypertrophic chondrocytes (J:58700)
• disorganized growth plates characterized by absence of the typical columnar arrangement of hypertrophic chondrocytes (J:58700)
• in resting zone, collagen fibrillar density is reduced but the length and diameter of fibrils is normal (J:84739)
• in the proliferating zone and the hypertrophic zone, collagen fibrillar density is further reduced and fibrils are very short, vary in diameter, and do not form a network (J:84739)
• in resting zone, collagen fibrillar density is reduced but the length and diameter of fibrils is normal (J:84739)
• in the proliferating zone and the hypertrophic zone, collagen fibrillar density is further reduced and fibrils are very short, vary in diameter, and do not form a network (J:84739)
• annulus does not form, however the nucleus pulposus does, but is located at the periphery of the disk (J:84739)
• annulus does not form, however the nucleus pulposus does, but is located at the periphery of the disk (J:84739)
• hypertrophic chondrocytes have an increased density of organelles and distended cisternae of ER and the cytosol is enriched with free ribosomes and polysomes (J:58700)
• hypertrophic chondrocytes have an increased density of organelles and distended cisternae of ER and the cytosol is enriched with free ribosomes and polysomes (J:58700)
• develops between E15 and time of birth (J:58700)
• develops between E15 and time of birth (J:58700)
• all bones formed by endochondral bone ossification are malformed (J:84739)
• all bones formed by endochondral bone ossification are malformed (J:84739)
• bones of the chondrocranium are undermineralized (J:58700)
• minimal or no mineral deposits in the matrix around hypertrophic chondroctyes (J:58700)
• bones of the chondrocranium are undermineralized (J:58700)
• minimal or no mineral deposits in the matrix around hypertrophic chondroctyes (J:58700)

nervous system
• homozygotes that survive past the E10.5-E12.5 stage develop the following brain defects: (J:58700)
• homozygotes that survive past the E10.5-E12.5 stage develop the following brain defects: (J:58700)
• some mice have holes in the forebrain and midbrain and show collapsed brain vesicles (J:58700)
• surface ectoderm of the cephalic regions has small clefts that contain round cells with small extensions (J:58700)
• brain tissue invades into the cephalic mesenchyme and fuses with the overlaying ectoderm (J:58700)
• some mice have holes in the forebrain and midbrain and show collapsed brain vesicles (J:58700)
• surface ectoderm of the cephalic regions has small clefts that contain round cells with small extensions (J:58700)
• brain tissue invades into the cephalic mesenchyme and fuses with the overlaying ectoderm (J:58700)
• seen in about 80% of embryos that survive to birth (J:58700)
• seen in about 80% of embryos that survive to birth (J:58700)
• exhibit neuronal ectopias in the ventral telencephalic region (J:58700)
• exhibit neuronal ectopias in the ventral telencephalic region (J:58700)

cardiovascular system
• embryos with complete transposition of arteries, show a coronary artery pattern consisting of right and left coronary arteries arising from the dorsal and ventral sinuses of Valsalva, respectively (J:107987)
• embryos with complete transposition of arteries, show a coronary artery pattern consisting of right and left coronary arteries arising from the dorsal and ventral sinuses of Valsalva, respectively (J:107987)
• sometimes the hepatic sinusoids are abnormally enlarged (J:80720)
• sometimes the hepatic sinusoids are abnormally enlarged (J:80720)
• sometimes the posterior cardinal veins are abnormally enlarged (J:80720)
• sometimes the posterior cardinal veins are abnormally enlarged (J:80720)
• exhibit anomalous conotruncal septation (J:80720)
• exhibit anomalous conotruncal septation (J:80720)
• mesenchymal cells in cardiac jelly of the outflow tract are abnormally abundant by E9.5 (J:80720)
• at E10.5, lack defined endocardial ridges and have anomalous excess of mesenchymal cells in the outflow tract, resulting in a rounded or irregular conus lumen (J:80720)
• mesenchymal cells in cardiac jelly of the outflow tract are abnormally abundant by E9.5 (J:80720)
• at E10.5, lack defined endocardial ridges and have anomalous excess of mesenchymal cells in the outflow tract, resulting in a rounded or irregular conus lumen (J:80720)
• most of the mesenchyme in the proximal conus is irregularly dispersed throughout the extracellular matrix and defined endocardial ridges are not recognizable (J:80720)
• at E10.5, lack defined endocardial ridges and have anomalous excess of mesenchymal cells in the outflow tract, resulting in a rounded or irregular conus lumen (J:80720)
• most of the mesenchyme in the proximal conus is irregularly dispersed throughout the extracellular matrix and defined endocardial ridges are not recognizable (J:80720)
• at E10.5, lack defined endocardial ridges and have anomalous excess of mesenchymal cells in the outflow tract, resulting in a rounded or irregular conus lumen (J:80720)
• hyperplastic conotruncal endocardial cushions (J:80720)
• hyperplastic conotruncal endocardial cushions (J:80720)
• aortic and pulmonary roots are arranged side by side, with the aortic root usually located at a slightly more ventral level (J:107987)
• aortic and pulmonary roots are arranged side by side, with the aortic root usually located at a slightly more ventral level (J:107987)
• 73% of embryos surviving to E17.5 exhibit complete transposition of great arteries (TGA) (J:80720)
• 73% of embryos surviving to E17.5 exhibit complete transposition of great arteries (TGA) (J:80720)
• exhibit signs of myocardial damage, including ruptures in the proximal conus and conoventricular junction (J:80720)
• exhibit signs of myocardial damage, including ruptures in the proximal conus and conoventricular junction (J:80720)
• the compact layer of cardiomyocytes is interrupted by small intercellular clefts and in a few embryos, the clefts in the myocardium are filled with endocardial cells (J:58700)
• the compact layer of cardiomyocytes is interrupted by small intercellular clefts and in a few embryos, the clefts in the myocardium are filled with endocardial cells (J:58700)
• 3 of 11 embryos with TGA show malformations of semilunar valves (J:80720)
• 3 of 11 embryos with TGA show malformations of semilunar valves (J:80720)
• asymmetrical and abnormal shapes of cushions which sometimes obstruct the vascular lumen (J:80720)
• asymmetrical and abnormal shapes of cushions which sometimes obstruct the vascular lumen (J:80720)
• asymmetrical and abnormal shapes of cushions which sometimes obstruct the vascular lumen (J:80720)
• asymmetrical and abnormal shapes of cushions which sometimes obstruct the vascular lumen (J:80720)
• pericardial tissue is thickened because of an increase in cell number and matrix deposition (J:58700)
• pericardial tissue is thickened because of an increase in cell number and matrix deposition (J:58700)
• between E13-E17, form microaneurysms associated with bleedings in several tissues (J:58700)
• between E13-E17, form microaneurysms associated with bleedings in several tissues (J:58700)
• in several tissues including lung, skin, and brain (J:58700)
• in several tissues including lung, skin, and brain (J:58700)
• in mice the die around E10.5-E12.5 (J:58700)
• in mice the die around E10.5-E12.5 (J:58700)
• weak heartbeat in mice that die between E10.5 and E12.5 (J:58700)
• weak heartbeat in mice that die between E10.5 and E12.5 (J:58700)

hearing/vestibular/ear
• structures of the inner ear are poorly developed (J:58700)
• structures of the inner ear are poorly developed (J:58700)
• structures of the middle ear are poorly developed (J:58700)
• structures of the middle ear are poorly developed (J:58700)

craniofacial
• bones of the chondrocranium (occipital, sphenoidal, and ethmoidal) are shortened and undermineralized (J:58700)
• bones of the chondrocranium (occipital, sphenoidal, and ethmoidal) are shortened and undermineralized (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• absent in embryos with exencephaly (J:58700)
• shorter nasal bone (J:58700)
• shorter nasal bone (J:58700)
• homozygotes without exencephaly have a domed skull (J:58700)
• homozygotes without exencephaly have a domed skull (J:58700)

liver/biliary system
• sometimes the hepatic sinusoids are abnormally enlarged (J:80720)
• sometimes the hepatic sinusoids are abnormally enlarged (J:80720)

digestive/alimentary system

homeostasis/metabolism
• in mice the die around E10.5-E12.5 (J:58700)
• in mice the die around E10.5-E12.5 (J:58700)

integument

respiratory system

cellular
• cardiac muscle cells lack basement membrane or are covered by abnormal basement membrane (J:58700)
• basement membrane surrounding the telencephalic vesicles is disrupted in 70% of E11.5 embryos (J:58700)
• cardiac muscle cells lack basement membrane or are covered by abnormal basement membrane (J:58700)
• basement membrane surrounding the telencephalic vesicles is disrupted in 70% of E11.5 embryos (J:58700)


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