Phenotypes associated with this allele

• Allele Symbol: Hspd1^{Gt(OST171441)Lex}
• Allele Name: gene trap OST171441, Lexicon Genetics
• Allele ID: MGI:4214000
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hspd1^Gt(OST171441)Lex/Hspd1^Gt(OST171441)Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:4949617
ht2	Hspd1^Gt(OST171441)Lex/Hspd1^+	B6.129S5-Hspd1^Gt(OST171441)Lex	MGI:5516348
ht3	Hspd1^Gt(OST171441)Lex/Hspd1^+	involves: 129S5/SvEvBrd * C57BL/6J	MGI:4949618

Genotype
MGI:4949617

hm1

• Allelic Composition: Hspd1^{Gt(OST171441)Lex}/Hspd1^{Gt(OST171441)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:171183 )

• all mice die by E9.75

embryonic lethality between implantation and placentation, incomplete penetrance ( J:171183 )

• some mice die between E7.5 and E9

embryo

embryonic growth retardation ( J:171183 )

decreased embryo size ( J:171183 )

• beginning at E6

growth/size/body

embryonic growth retardation ( J:171183 )

decreased embryo size ( J:171183 )

• beginning at E6

Genotype
MGI:5516348

ht2

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

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

Genotype
MGI:4949618

ht3

• Allelic Composition: Hspd1^{Gt(OST171441)Lex}/Hspd1⁺
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

reproductive system

transmission ratio distortion ( J:171183 )

• male mice produce fewer female offspring compared with wild-type males