Tg(Mt1-CBS*S466L)EB86Waku
Transgene Detail

Summary

• Symbol: Tg(Mt1-CBS*S466L)EB86Waku
• Name: transgene insertion EB86, Warren Kruger
• MGI ID: MGI:3851386
• Synonyms: Tg-S466L
• Transgene: Tg(Mt1-CBS*S466L)EB86Waku Location: unknown
• Alliance: Tg(Mt1-CBS*S466L)EB86Waku page

Transgene origin

• Strain of Origin: (C57BL/6 x C3H)F2

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Mt1-CBS*S466L)EB86Waku expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  CBS (875)

  Cbs	(MGI:88285)

  Transgene codes for a protein with an serine to leucine mutation.

• Mutation details: The mouse promoter was used to drive zinc-inducible expression of the human cDNA with a point mutation that results in the amino acid substitution of lysine for serine at position 466. This mutation was identified in patients with homocystinuria. Three lines were created and line EB86 was selected as the representative line. (J:150703)

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:150703 Gupta S, et al., Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. Hum Mutat. 2008 Aug;29(8):1048-54
• All: 4 reference(s)