Mouse Genome Informatics
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    Hspg2tm1.1Soni/Hspg2tm1.1Soni
involves: 129S/SvEv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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
OMIM IDRef(s)
Schwartz-Jampel Syndrome, Type 1; SJS1 255800 J:139975