Tg(Col2a1*G574S)1Waho
Transgene Detail

Summary

• Symbol: Tg(Col2a1*G574S)1Waho
• Name: transgene insertion 1, William A Horton
• MGI ID: MGI:7261448
• Transgene: Tg(Col2a1*G574S)1Waho Location: unknown
• Alliance: Tg(Col2a1*G574S)1Waho page

Transgene origin

• Strain of Origin: Not Applicable

Transgene description

• Transgene Type: Transgenic (Dominant negative, Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Col2a1*G574S)1Waho expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  mouse	Col2a1 (MGI:88452)	Contains the G574S mutation

• Mutation details: A G to A change in exon 33 resulting in a glycine to serine substitution at amino acid 574 (Gly574Ser) was introduced slightly carboxy-terminal to the middle of the triple helical domain of the mouse type II collagen (Col2a1). This mutation was identified in a patient with the lethal human chondrodysplasia, hypochondrogenesis, and acts as a dominant negative. (J:38204)

Disease models

Expression

In Structures Affected by this Mutation:

9 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:38204 Maddox BK, et al., Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen. Dev Dyn. 1997 Feb;208(2):170-7
• All: 2 reference(s)