About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3811208
Allelic
Composition
Hspg2tm1.1Soni/Hspg2tm1.1Soni
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1.1Soni mutation (0 available); any Hspg2 mutation (308 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 24 months of age

nervous system
• mice exhibit denervation and reinnervation in the neuromuscular junctions (NMJs)
• 96% of mice exhibit NMJ remodeling unlike in wild-type mice
• NMJs cover 58% of the area covered by wild-type NMJs
• mice exhibit prolonged decay time of potentiation of muscle force compared to in wild-type mice
• the twitch/tetanus ratio is 30% higher than in wild-type mice at low frequencies
• however, twitch/tetanus ration is normal at high frequencies
• mice exhibit decreased frequency and prolonged decay of miniature endplate potential compared to in wild-type mice

muscle
• no evidence of mononuclear infiltrate or necrotic fibers are present
• at 6 months of age, mice exhibit variability in skeletal muscle fiber size
• at 6 months of age, mice exhibit centralized nuclei in skeletal muscle fibers
• at 6 months of age, mice exhibit a predominance of type 1 skeletal muscle fibers
• skeletal muscles exhibit spontaneous muscle activity at rest on an electromyogram unlike in wild-type mice
• however, no spontaneous activity is observed in the diaphragm

skeleton
• mice exhibit hip dysplasia

growth/size/body
• mice exhibit a decrease in body weight compared to in Hspg2tm1.1Soni homozygotes and wild-type mice
• mice are 15% shorter than wild-type mice

behavior/neurological
• at 2 months of age, mice display stiffened flexion of the hindlimbs when suspended by the tail, unlike in wild-type mice, that is more severe than in Hspg2tm1.1Soni homozygotes
• at 6 months of age 54% of mice exhibit strong stiffened flexion of the hindlimbs and 31% mild stiffened flexion of the hindlimbs when suspended by the tail

vision/eye
• at 2 months of age, mice exhibit a delay in eyelid opening that is more severe than in Hspg2tm1.1Soni homozygotes
• at 6 months of age, 54% of mice have constantly closed eyes

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


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory