Tg(CAG-SPTLC1*C133W)8EAmcc
Transgene Detail

Summary

• Symbol: Tg(CAG-SPTLC1*C133W)8EAmcc
• Name: transgene insertion 8E, Alexander McCampbell
• MGI ID: MGI:4418339
• Synonyms: SPTLC1^C133W
• Transgene: Tg(CAG-SPTLC1*C133W)8EAmcc Location: unknown
• Alliance: Tg(CAG-SPTLC1*C133W)8EAmcc page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(CAG-SPTLC1*C133W)8EAmcc expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  hamster, Chinese	Sptlc1 (100689326)

• Mutation details: The CAG promoter drives ubiquitous expression of the hamster cDNA containing nucleotide substitutions that result in the amino acid substitution of tryptophan for cysteine at position 133 (C133W). This mutation is commonly found in patients with type 1 hereditary sensory and autonomic neuropathy (HSAN1). Three lines were created (lines 8B, 8E, and 8F) with lines 8E expressing the highest levels and selected as the representative line. (J:106812)

Disease models

Expression

In Structures Affected by this Mutation:

5 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:106812 McCampbell A, et al., Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. Hum Mol Genet. 2005 Nov 15;14(22):3507-21
• All: 4 reference(s)