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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hspg2tm1Ref
targeted mutation 1, Reinhard Fassler
MGI:1934892
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hspg2tm1Ref/Hspg2tm1Ref involves: 129S1/Sv * 129X1/SvJ MGI:2178957
hm2
Hspg2tm1Ref/Hspg2tm1Ref involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3761290
cx3
Hspg2tm1Ref/Hspg2tm1Ref
Mmp9tm1Tvu/Mmp9tm1Tvu
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ MGI:3590209


Genotype
MGI:2178957
hm1
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 (310 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
• 70-80% die between E10.5 and E12.5 with heart defects

growth/size/body
• shorter nasal bone
• thorax is narrowed
• trunk is shortened

embryo

limbs/digits/tail

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

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

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
• sometimes the hepatic sinusoids are abnormally enlarged
• sometimes the posterior cardinal veins are abnormally enlarged
• exhibit signs of myocardial damage, including ruptures in the proximal conus and conoventricular junction
• 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
• mesenchymal cells in cardiac jelly of the outflow tract are abnormally abundant by E9.5
• 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
• most of the mesenchyme in the proximal conus is irregularly dispersed throughout the extracellular matrix and defined endocardial ridges are not recognizable
• 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
• hyperplastic conotruncal endocardial cushions
• exhibit anomalous conotruncal septation
• aortic and pulmonary roots are arranged side by side, with the aortic root usually located at a slightly more ventral level
• 73% of embryos surviving to E17.5 exhibit complete transposition of great arteries (TGA) (J:80720)
• 3 of 11 embryos with TGA show malformations of semilunar valves
• asymmetrical and abnormal shapes of cushions which sometimes obstruct the vascular lumen
• asymmetrical and abnormal shapes of cushions which sometimes obstruct the vascular lumen
• pericardial tissue is thickened because of an increase in cell number and matrix deposition
• between E13-E17, form microaneurysms associated with bleedings in several tissues
• in several tissues including lung, skin, and brain
• in mice the die around E10.5-E12.5
• weak heartbeat in mice that die between E10.5 and E12.5

hearing/vestibular/ear
• structures of the inner ear are poorly developed
• structures of the middle ear are poorly developed

craniofacial
• absent in embryos with exencephaly
• the occipital bone is shortened and undermineralized
• absent in embryos with exencephaly
• the sphenoidal bone is shortened and undermineralized
• absent in embryos with exencephaly
• the ethmoidal bone is shortened and undermineralized
• shorter nasal bone
• homozygotes without exencephaly have a domed skull

liver/biliary system
• sometimes the hepatic sinusoids are abnormally enlarged

digestive/alimentary system

homeostasis/metabolism
• in mice the die around E10.5-E12.5

integument

respiratory system
• shorter nasal bone

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

muscle
• exhibit signs of myocardial damage, including ruptures in the proximal conus and conoventricular junction
• 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




Genotype
MGI:3761290
hm2
Allelic
Composition
Hspg2tm1Ref/Hspg2tm1Ref
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1Ref mutation (0 available); any Hspg2 mutation (310 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• radial glial endfeet are virtually absent in the medial cortex but less disrupted in the lateral cortex that continue to divide until E18 but show no acquisition of astroglial, oligodendroglial or neuronal markers
• all but one mouse suffered from exencephaly with partial disruption of the basement membrane in this hemisphere
• however, no defects in the band of proliferating cells, in the number of neurons or in the orientation of cell division was detected in the one cortical hemisphere

cellular
• radial glial endfeet are virtually absent in the medial cortex but less disrupted in the lateral cortex that continue to divide until E18 but show no acquisition of astroglial, oligodendroglial or neuronal markers
• all but one mouse suffered from exencephaly with partial disruption of the basement membrane in this hemisphere




Genotype
MGI:3590209
cx3
Allelic
Composition
Hspg2tm1Ref/Hspg2tm1Ref
Mmp9tm1Tvu/Mmp9tm1Tvu
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1Ref mutation (0 available); any Hspg2 mutation (310 available)
Mmp9tm1Tvu mutation (2 available); any Mmp9 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• short and thick
• severely disorganized

limbs/digits/tail
• short and thick





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory