Tg(Col1a1-TGFB1*H222D)#Xca
Transgene Detail

Summary

• Symbol: Tg(Col1a1-TGFB1*H222D)#Xca
• Name: transgene insertion, Xu Cao
• MGI ID: MGI:8393387
• Synonyms: TGFB1-CED, TGF-beta1-CED
• Transgene: Tg(Col1a1-TGFB1*H222D)#Xca Location: unknown
• Alliance: Tg(Col1a1-TGFB1*H222D)#Xca page

Transgene origin

• Strain of Origin: C57BL/6J

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Col1a1-TGFB1*H222D)#Xca expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TGFB1 (7040)

  Tgfb1

  (MGI:98725)

  Contains p.H222D variant identified in Camurati-Engelmann disease patients.

• Tg(Col1a1-TGFB1*H222D)#Xca expression driven by 1 gene
  Transgene expression driven by:
  

  Organism	Driver Gene	Note
  Not Specified	Col1a1

• Mutation details:

  The bone-specific 2.3-kb type 1 collagen (Col1a1) promoter drives the expression of a cDNA fragment containing the full-length human Camurati-Engelmann disease-derived TGFB1 encoding a point mutation, p.H222D. RT-PCR confirmed RNA expression in bone but not lungs, liver, heart, skin, or kidney. Two lines were generated. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:151616)

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:151616 Tang Y, et al., TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation. Nat Med. 2009 Jul;15(7):757-65
• All: 2 reference(s)