Tg(Mt1-CBS*I278T)1Waku
Transgene Detail

Summary

• Symbol: Tg(Mt1-CBS*I278T)1Waku
• Name: transgene insertion 1, Warren Kruger
• MGI ID: MGI:3851388
• Synonyms: Tg-I278T
• Transgene: Tg(Mt1-CBS*I278T)1Waku Location: unknown
• Alliance: Tg(Mt1-CBS*I278T)1Waku page

Transgene origin

• Strain of Origin: (C57BL/6 x C3H)F2

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Mt1-CBS*I278T)1Waku 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 isoleucine to threonine 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 threonine for isoleucine at position 278. This mutation was identified in patients with CBS deficiency. Three lines were created with no line numbers given. (J:105060)

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:105060 Wang L, et al., Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum Mol Genet. 2005 Aug 1;14(15):2201-8
• All: 17 reference(s)