Tg(COL2A1*R519C)#Afe
Transgene Detail

Summary

• Symbol: Tg(COL2A1*R519C)#Afe
• Name: transgene insertion, Andrzej Fertala
• MGI ID: MGI:7311638
• Synonyms: COL2A1⁺
• Transgene: Tg(COL2A1*R519C)#Afe Location: unknown
• Alliance: Tg(COL2A1*R519C)#Afe page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(COL2A1*R519C)#Afe expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  COL2A1 (1280)

  Col2a1

  (MGI:88452)

• Mutation details: The transgene consists of a fragment of human genomic DNA encoding COL2A1 with an arginine 519 cysteine (C to T) mutation from skin fibroblasts from a patient with osteoarthritis with mild chondrodysplasia. The fragment includes 4.5 kb of 5' upstream regulatory sequence and 3.0 kb of 3' downstream sequences past the major polyadenylation signal. No line numbers identified but the founder selected carried 2 copies of the transgene. (J:307985)

Expression

In Structures Affected by this Mutation:

6 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:307985 Arita M, et al., Skeletal abnormalities and ultrastructural changes of cartilage in transgenic mice expressing a collagen II gene (COL2A1) with a Cys for Arg-alpha1-519 substitution. Osteoarthritis Cartilage. 2002 Oct;10(10):808-15
• All: 1 reference(s)