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. (J:149858)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
FVB/N
--
Insertion
--
1
--
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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