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| Nomenclature |
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Symbol:
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Spg7tm1Eir
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Name:
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spastic paraplegia 7 homolog (human);
targeted mutation 1, Elena I Rugarli
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MGI ID: |
MGI:3028923 |
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Synonyms: |
Spg7-/- |
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Gene:
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Spg7
Location:
Chr8:123062942-123097760 bp, + strand
Genetic Position: Chr8,
72.04 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:87616
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A genomic fragment encompassing exons 1 and 2 was replaced with a floxed neo cassette inserted by homologous recombination. RT-PCR analysis showed the presence of the alternative transcript composed of exon 1b spliced directly to exon 3 which is the endoplasmic reticulum isoform, but absence of the mitochondrial specific isoform, indicating this mouse is an isoform-specific knock-out. (J:87616, J:187268)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Spg7 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:87616
Ferreirinha F et al.,
"Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport."
J Clin Invest 2004 Jan;113(2):231-42
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All: |
4 reference(s)
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Analysis Tools
