Tg(SOD1*L126Z)#Deng
Transgene Detail

Summary

• Symbol: Tg(SOD1*L126Z)#Deng
• Name: transgene insertion, Han-Xiang Deng
• MGI ID: MGI:5449894
• Synonyms: SOD1^L126Z
• Transgene: Tg(SOD1*L126Z)#Deng Location: unknown
• Alliance: Tg(SOD1*L126Z)#Deng page

Transgene origin

• Strain of Origin: (C57BL/6 x SJL)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(SOD1*L126Z)#Deng expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SOD1 (6647)

  Sod1	(MGI:98351)

• Mutation details: This transgene consists of the human SOD1 gene with a leucine to glutamine/glutamic acid substitution at position 126 (L126Z) in exon 5. This mutation results in a premature stop codon at 126 and produces a truncated product that lacks the C-terminal 28 amino acids. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:109458)

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

References

• Original: J:109458 Deng HX, et al., Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria. Proc Natl Acad Sci U S A. 2006 May 2;103(18):7142-7
• All: 2 reference(s)