Phenotypes Associated with This Genotype

Genotype
MGI:3811207

• Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni
• Genetic Background: involves: 129S/SvEv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

mortality/aging ( J:139975 )

N • unlike Hspg2^tm1Soni homozygotes, mice exhibit a normal lifespan

behavior/neurological

abnormal behavior ( J:139975 )

• mice display stiffened flexion of the hindlimbs when suspended by the tail that is less severe than in Hspg2^tm1Soni 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

delayed eyelid opening ( J:139975 )

• delay in eyelid opening is less severe than in Hspg2^tm1Soni homozygotes

• at 6 months go age, 54% of mice have partially closed eyes

growth/size/body

decreased body weight ( J:139975 )

• less severe than in Hspg2^tm1Soni homozygotes

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