Allele/Variant

Tg(Fabp4-LMNA*R482Q)11ACdl

Species
Mus musculus
Symbol
Tg(Fabp4-LMNA*R482Q)11ACdl
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • FPLD
Description
The transgene contains the fatty acid binding protein 4 (Fabp4/aP2) promoter driving adipose-specific expression of a cDNA encoding the A 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 11A.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations