Phenotypes associated with this allele

• Allele Symbol: Spg7^tm1Eir
• Allele Name: targeted mutation 1, Elena I Rugarli
• Allele ID: MGI:3028923
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spg7^tm1Eir/Spg7^tm1Eir	either: 129/Sv-Spg7^tm1Eir or (involves: 129/Sv * C57BL/6)	MGI:3028926

Genotype
MGI:3028926

hm1

• Allelic Composition: Spg7^tm1Eir/Spg7^tm1Eir
• Genetic Background: either: 129/Sv-Spg7^tm1Eir or (involves: 129/Sv * C57BL/6)

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

behavior/neurological

abnormal motor coordination/balance ( J:87616 )

impaired balance ( J:87616 )

• balance maintenance during rotarod test for example is impaired from 4 months

impaired coordination ( J:87616 )

impaired limb coordination ( J:87616 )

• in mice >17 months of age, abnormal gait is seen, due to impaired hindlimb coordination

nervous system

abnormal axon morphology ( J:87616 )

• axonal swellings resulting from accumulations of organelles and neurofilaments are observed

axon degeneration ( J:87616 )

• distal axonopathy of spinal and peripheral axons characterized by swelling and degeneration

• associated with abnormal mitochondria

abnormal axonal transport ( J:87616 )

• impairment of retrograde axonal transport in symptomatic mice

growth/size/body

decreased body weight ( J:87616 )

• at 12 months of age, mice display a significant loss of body weight compared to controls

skeleton

scoliosis ( J:87616 )

• seen in mice >17 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia 7		DOID:0110816	OMIM:607259	J:87616