Phenotypes Associated with This Genotype

Genotype
MGI:5516348

• Allelic Composition: Hspd1^{Gt(OST171441)Lex}/Hspd1⁺
• Genetic Background: B6.129S5-Hspd1^{Gt(OST171441)Lex}

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

behavior/neurological

limb grasping ( J:197946 )

• mutants show a progressive impairment in the extension reflex, showing limb clasping by 12 months of age

impaired coordination ( J:197946 )

• mutants first show impaired running on the rotarod bar at 12 months of age and show an additional decline in performance at older ages

• mutants fall after shorter periods on the rotarod and performance does not improve in subsequent trials as in wild-type mice

abnormal voluntary movement ( J:197946 )

• late onset and slowly progressive motor defect recapitulating spastic paraplegia

spasticity ( J:197946 )

• late onset and slowly progressive motor defect recapitulating spastic paraplegia

nervous system

abnormal corticospinal tract morphology ( J:197946 )

• corticospinal tracts at 3 months of age show an increased presence of large caliber axons compared to wild-type mice

• presence of swollen axons in the corticospinal tracts at 18 months of age

• presence of swollen mitochondria with disorganized cristae in the axons of the corticospinal tracts by 3 months of age

abnormal motor neuron morphology ( J:197946 )

• alterations in the axons of the upper motoneuron

muscle

decreased skeletal muscle fiber size ( J:197946 )

• gastrocnemius muscle shows a decrease in fiber size at 18, but not 3, months of age

cellular

abnormal mitochondrial morphology ( J:197946 )

• presence of swollen mitochondria with disorganized cristae in the axons of the corticospinal tracts by 3 months of age

disorganized mitochondrial cristae ( J:197946 )

• swollen mitochondria of axons in the corticospinal tracts have disorganized cristae

abnormal mitochondrial ATP synthesis coupled electron transport ( J:197946 )

• mitochondria isolated from brain cortex and spinal cord at 12 and 18 months of age show decreased ATP production when incubated with pyruvate-malate, glutamate-malate, and succinate-rotenone, indicating impaired mitochondrial energy production

• mutants exhibit reduced amount of assembled respiratory chain complex III, indicating a defect in the assembly of the of chain complex III in brain cortex and spinal cord

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia 13		DOID:0110766	OMIM:605280	J:197946