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Spg7tm1Eir
Targeted Allele Detail
Nomenclature
Symbol: Spg7tm1Eir
Name: SPG7, paraplegin matrix AAA peptidase subunit; targeted mutation 1, Elena I Rugarli
MGI ID: MGI:3028923
Synonyms: Spg7-/-
Gene: Spg7  Location: Chr8:123062942-123097760 bp, + strand  Genetic Position: Chr8, 72.04 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:87616
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Spg7 Mutation:  16 strains or lines available
References
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
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory