Spg7^tm1Eir
Targeted Allele Detail

Summary

• Symbol: Spg7^tm1Eir
• Name: SPG7, paraplegin matrix AAA peptidase subunit; targeted mutation 1, Elena I Rugarli
• MGI ID: MGI:3028923
• Synonyms: Spg7^-/-
• Gene: Spg7 Location: Chr8:123792247-123824499 bp, + strand Genetic Position: Chr8, 72.04 cM
• Alliance: Spg7^tm1Eir page

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 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 33 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: 6 reference(s)