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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Spg7tm1Eir
targeted mutation 1, Elena I Rugarli
MGI:3028923
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Spg7tm1Eir/Spg7tm1Eir either: 129/Sv-Spg7tm1Eir or (involves: 129/Sv * C57BL/6) MGI:3028926


Genotype
MGI:3028926
hm1
Allelic
Composition
Spg7tm1Eir/Spg7tm1Eir
Genetic
Background
either: 129/Sv-Spg7tm1Eir or (involves: 129/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spg7tm1Eir mutation (0 available); any Spg7 mutation (14 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
hereditary spastic paraplegia 7 DOID:0110816 OMIM:607259
J:87616





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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory