Mouse Genome Informatics
hm
    Spg7tm1Eir/Spg7tm1Eir
either: 129/Sv-Spg7tm1Eir or (involves: 129/Sv * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• balance maintenance during rotarod test for example is impaired from 4 months
• in mice >17 months of age, abnormal gait is seen, due to impaired hindlimb coordination

nervous system
• axonal swellings resulting from accumulations of organelles and neurofilaments are observed
• distal axonopathy of spinal and peripheral axons characterized by swelling and degeneration
• associated with abnormal mitochondria
• impairment of retrograde axonal transport in symptomatic mice

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

skeleton
• seen in mice >17 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Spastic Paraplegia 7, Autosomal Recessive; SPG7 607259 J:87616