Tg(Fabp4-LMNA*R482Q)17CCdl
Transgene Detail

Summary

• Symbol: Tg(Fabp4-LMNA*R482Q)17CCdl
• Name: transgene insertion 17C, Constantine D Londos
• MGI ID: MGI:4454324
• Transgene: Tg(Fabp4-LMNA*R482Q)17CCdl Location: unknown
• Alliance: Tg(Fabp4-LMNA*R482Q)17CCdl page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Fabp4-LMNA*R482Q)17CCdl expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  LMNA (4000)

  Lmna	(MGI:96794)

• Mutation details: The transgene contains the fatty acid binding protein 4 (Fabp4/aP2) promoter driving adipose-specific expression of a cDNA encoding the C isoform of human lamin A with substitution of glutamine for arginine at amino acid position 482 followed by an SV40 splice site and poly(A) signal. This amino acid substitution was identified in patients with familial partial lipodystrophy of the Dunnigan type (FPLD2). A mouse line was generated from founder 17C. (J:149858)

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: 1 strain available Cell Lines: 0 lines available

References

• Original: J:149858 Wojtanik KM, et al., The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. J Lipid Res. 2009 Jun;50(6):1068-79
• All: 1 reference(s)