Tg(SOD1*L126Z)45Dbo
Transgene Detail

Summary

• Symbol: Tg(SOD1*L126Z)45Dbo
• Name: transgene insertion 45, David R Borchelt
• MGI ID: MGI:5621061
• Synonyms: L126Z-SOD1-line45
• Transgene: Tg(SOD1*L126Z)45Dbo Location: unknown
• Alliance: Tg(SOD1*L126Z)45Dbo page

Transgene origin

• Strain of Origin: (C3H/HeJ x C57BL/6J)F2

Transgene description

• Transgene Type: Transgenic (Humanized sequence)
• Mutation: Insertion
• Mutation details: A 12 kb genomic fragment of human SOD1 with introns between exons 3, 4, and 5 removed, creating a fragment with just two introns (one between exon 1 and 2 and one between exon 2 and 3) and exons 3,4, and 5 fused to make one new exon, and a leucine to glutamine/glutamic acid substitution at position 126 (L126Z) in exon 5. This mutation results in a premature stop codon at position 126 and produces a truncated product that lacks the C-terminal 28 amino acids. Three lines were made: 171, 45, and 44. (J:219482)

Disease models

Expression

In Structures Affected by this Mutation:

3 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

References

• Original: J:219482 Wang J, et al., Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation. Hum Mol Genet. 2005 Aug 15;14(16):2335-47
• All: 5 reference(s)