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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hspg2tm1Soni
targeted mutation 1, Sophie Nicole
MGI:3811187
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hspg2tm1Soni/Hspg2tm1Soni involves: 129S/SvEv * C57BL/6 MGI:3811207
hm2
Hspg2tm1Soni/Hspg2tm1Soni involves: 129S/SvEv * DBA/2J MGI:5428882


Genotype
MGI:3811207
hm1
Allelic
Composition
Hspg2tm1Soni/Hspg2tm1Soni
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1Soni mutation (0 available); any Hspg2 mutation (242 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• unlike Hspg2tm1Soni homozygotes, mice exhibit a normal lifespan

behavior/neurological
• mice display stiffened flexion of the hindlimbs when suspended by the tail that is less severe than in Hspg2tm1Soni homozygotes
• at 6 months of age, 54% of mice exhibit mild stiffened flexion of the hindlimbs when suspended by the tail unlike in wild type mice

vision/eye
• delay in eyelid opening is less severe than in Hspg2tm1Soni homozygotes
• at 6 months go age, 54% of mice have partially closed eyes

growth/size/body
• less severe than in Hspg2tm1Soni homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Schwartz-Jampel syndrome 1 DOID:0090005 OMIM:255800
J:139975




Genotype
MGI:5428882
hm2
Allelic
Composition
Hspg2tm1Soni/Hspg2tm1Soni
Genetic
Background
involves: 129S/SvEv * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1Soni mutation (0 available); any Hspg2 mutation (242 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• shorter internodal lengths at 2 and 8 months of age with a concomitant increase in the number of myelinating Schwann cells
• the distribution of axonal diameters is slightly shifted toward higher values but the mean nerve fiber diameter is similar to controls resulting in an increased mean g ratio
• marked increase in the number of Schmidt-Lanterman incisures and adjacent juxtaincisures at 8 months of age
• increase is less pronounced at 2 months of age compared to 8 months of age
• shorter internodal lengths at 2 and 8 months of age with a concomitant increase in the number of myelinating Schwann cells
• polyaxonal myelination is more frequently seen compared to wild-type controls in sciatic nerves
• however, no evidence of demyelination or remyelination is detected in sciatic nerves
• increase in the mean length of the nodal gap on teased sciatic nerve fibers and in longitudinal nerve sections at 8 months of age
• mild increase in length
• major remodeling is seen in tibialis anterior longitudinal sections with incomplete apposition of presynaptic and postsynaptic components, thin terminal nerves and short sprouting of terminal Schwann cells suggestive of reinnervation processes
• dysmyelination of preterminal segments in neuromuscular junctions with age
• however, no evidence of demyelination or remyelination is detected in sciatic nerves
• display bursts of motor unit action potential firing at high rates (120 to 300 Hz; neuromyotonic discharges) at 8 months of age
• peripheral nerve hyperexcitability is seen in the paraspinal and facial muscles at 2 months of age and becomes more severe with age
• greater attenuations of compound nerve action potentials are detected in vitro assays suggest that persistent axonal depolarization may occur in nerves

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Schwartz-Jampel syndrome 1 DOID:0090005 OMIM:255800
J:183547





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/28/2022
MGI 6.20
The Jackson Laboratory