|This mutant mouse strain carries a targeted mutation for the Pnpla3 gene in which exon 1 has been deleted and may be useful in studies of lipid metabolism and nonalcoholic fatty liver disease.|
Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Wild-type x Heterozygote (Female x Male) 06-DEC-13 Mating System Heterozygote x Wild-type (Female x Male) 06-DEC-13 Species laboratory mouse Donating Investigator Erin E. Kershaw, University of Pittsburgh
The Pnpla3 (patatin-like phospholipase domain containing 3) gene encodes a protein with homology to known lipases that is enriched in adipose tissue and induced during adipogenesis. It has been reported to function as a lysophosphatidic acid acyltransferase activity, but may possess additional activities. A genetic variation of the human PNPLA3 is highly associated with hepatic triacylglycerol levels, hepatocellular injury and nonalcoholic fatty liver disease (NAFLD) in humans. These mice carry a targeted mutation for the Pnpla3 gene in which exon 1 has been replaced by a NEO cassette. Mice that are homozygous for this targeted mutation are viable and fertile. No gene product (mRNA) is detected by RT-PCR analysis of perigonadal white adipose tissue, brown adipose tissue, adrenal gland, and liver from homozygous animals. Homozygotes fed a high-sucrose diet exhibit a reduction in the increase in hepatic lysophosphatidic acid acyltransferase activity seen in similarly treated wildtype mice.
A targeting vector designed by Dr. Erin Kershaw (while at Beth Israel Deaconess Medical Center) containing a NEO cassette was used to disrupt exon 1 (nucleotides position -12 to +1927 [1,939 bp]). The construct was electroporated into 129S6/SvEvTac-derived W4 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric animals were tested for germline transmission. The mice were crossed to C57BL/6J and then backcrossed to C57BL/6NTac for more than 10 generations. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6NJ (Stock No. 005304) at least once to establish the colony.
|Wild-type from the colony|
|Considerations for Choosing Controls|
View Mammalian Phenotype TermsMammalian Phenotype Terms provided by MGIassigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Pnpla3tm1Eek/Pnpla3tm1Eekinvolves: 129S6/SvEvTac * C57BL/6
- homeostasis/metabolism phenotype
- *normal* homeostasis/metabolism phenotype
- mice exhibit normal energy, glucose, and lipid homeostasis (MGI Ref ID J:168857)View Research ApplicationsResearch ApplicationsThis mouse can be used to support research in many areas including:
|Allele Name||targeted mutation 1, Erin E Kershaw|
|Allele Type||Targeted (knock-out)|
|Strain of Origin||129S6/SvEvTac|
|Gene Symbol and Name||Pnpla3, patatin-like phospholipase domain containing 3|
|Gene Common Name(s)||ADPN; Adpn; C22orf20; adiponutrin; iPLA(2)epsilon;|
|Molecular Note||Exon 1 was replaced with a neo cassette. The absence of transcript expression was confirmed by RNA analysis on white adipose tissue, brown adipose tissue, adrenal, and liver extracts. [MGI Ref ID J:168857]|
Basantani MK; Sitnick MT; Cai L; Brenner DS; Gardner NP; Li JZ; Schoiswohl G; Yang K; Kumari M; Gross RW; Zechner R; Kershaw EE. 2011. Pnpla3/Adiponutrin deficiency in mice does not contribute to fatty liver disease or metabolic syndrome. J Lipid Res 52(2):318-29. [PubMed: 21068004] [MGI Ref ID J:168857]
Kumari M; Schoiswohl G; Chitraju C; Paar M; Cornaciu I; Rangrez AY; Wongsiriroj N; Nagy HM; Ivanova PT; Scott SA; Knittelfelder O; Rechberger GN; Birner-Gruenberger R; Eder S; Brown HA; Haemmerle G; Oberer M; Lass A; Kershaw EE; Zimmermann R; Zechner R. 2012. Adiponutrin functions as a nutritionally regulated lysophosphatidic acid acyltransferase. Cell Metab 15(5):691-702. [PubMed: 22560221] [MGI Ref ID J:184781]
Animal Health ReportsRoom Number FGB27
Breeding & Husbandry When maintaining a live colony, these mice can be bred as homozygotes. Mating System Wild-type x Heterozygote (Female x Male) 06-DEC-13 Heterozygote x Wild-type (Female x Male) 06-DEC-13
This strain is currently Under Development for Cryo.
|Wild-type from the colony|
|Considerations for Choosing Controls|
|Control Pricing Information for Genetically Engineered Mutant Strains.|
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