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Gene: Lepr^fa (leptin receptor; fa mutant) Rattus norvegicus

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Symbol:	Lepr^fa
Name:	leptin receptor; fa mutant
RGD ID:	13432153
Description:	A missense mutation (an A to C conversion at nucleotide position 806) was found in the extracellular domain of all the isoforms in Zucker fatty (fa/fa) rats, which resulted in an amino acid change from Gln to Pro at + 269 (the Gln269Pro mutation). ASSOCIATED WITH albuminuria; decreased survivor rate; hepatic steatosis; ASSOCIATED WITH Hyperphagia; Insulin Resistance; obesity
Type:	allele of Lepr
Previously known as:	Lepr^[fa]; Leprfa
Is Marker For:	Strains: ZUC-Lepr^faSte-/- ZUC-Lepr^fa Crl:ZUC-Lepr^fa F344.ZUC-Lepr^fa/Tj Crlj:ZUC-Lepr^fa Crl:ZUC(Orl)-Lepr^fa ZSF1-Lepr^fa/cp/Crl HsdHlr:ZUC-Lepr^fa Slc:ZUC-Lepr^fa-/- Ho:ZFDM-Lepr^fa SS.ZUC-Lepr^fa-/-/Slc SS.ZUC-Lepr^fa-/+/Slc BN.ZUC-Lepr^fa
Latest Assembly:	GRCr8 - GRCr8 Assembly
Position:	No map positions available.

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Hyperphagia (IAGP)

Insulin Resistance (IAGP)

obesity (IAGP)

proteinuria (IAGP)

type 2 diabetes mellitus (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

albuminuria (IAGP)

decreased survivor rate (IAGP)

hepatic steatosis (IAGP)

hyperlipidemia (IAGP)

increased body mass index (IAGP)

increased body weight (IAGP)

increased circulating alanine transaminase level (IAGP)

increased circulating cholesterol level (IAGP)

increased circulating leptin level (IAGP)

increased circulating triglyceride level (IAGP)

increased epididymal fat pad weight (IAGP)

increased food intake (IAGP)

increased gonadal fat pad weight (IAGP)

increased inguinal fat pad weight (IAGP)

increased retroperitoneal fat pad weight (IAGP)

increased systemic arterial systolic blood pressure (IAGP)

increased white fat cell number (IAGP)

obese (IAGP)

polyphagia (IAGP)

renal glomerulus fibrosis (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Characterization of a new animal model of metabolic syndrome: the DahlS.Z-Lepr(fa)/Lepr(fa) rat.	Hattori T, etal., Nutr Diabetes. 2011 Jan 31;1:e1. doi: 10.1038/nutd.2010.1.
2.	Genes unlinked to the leptin receptor influence urinary albumin excretion in obese Zucker rats.	Kim K, etal., Physiol Genomics. 2010 Feb 16.
3.	Association of fat cell size and paracrine growth factors in development of hyperplastic obesity.	Marques BG, etal., Am J Physiol 1998 Dec;275(6 Pt 2):R1898-908.
4.	Hyperphagia as a mediator of renal disease initiation in obese Zucker rats.	Stevenson FT, etal., Obes Res 2001 Aug;9(8):492-9.
5.	Molecular cloning of rat leptin receptor isoform complementary DNAs--identification of a missense mutation in Zucker fatty (fa/fa) rats.	Takaya K, etal., Biochem Biophys Res Commun. 1996 Aug 5;225(1):75-83.
6.	Phenotype of the obese Koletsky (f) rat due to Tyr763Stop mutation in the extracellular domain of the leptin receptor (Lepr): evidence for deficient plasma-to-CSF transport of leptin in both the Zucker and Koletsky obese rat.	Wu-Peng XS, etal., Diabetes. 1997 Mar;46(3):513-8.

Genomics

Allelic Variants

Name	Chromosome	Start Pos	End Pos	Reference Nucleotide	Variant Nucleotide	Variant Type	Assembly
Leprfa-var1	chr5	116389200	116389200	A	C	point_mutation	mRatBN7.2
Leprfa-var1	chr5	120597857	120597857	A	C	point_mutation	Rnor_6.0

Related Rat Strains

The following Strains have been annotated to Lepr^fa

BN.ZUC-Lepr^fa Crl:ZUC(Orl)-Lepr^fa Crl:ZUC-Lepr^fa Crlj:ZUC-Lepr^fa F344.ZUC-Lepr^fa/Tj Ho:ZFDM-Lepr^fa HsdHlr:ZUC-Lepr^fa Slc:ZUC-Lepr^fa-/- SS.ZUC-Lepr^fa-/+/Slc SS.ZUC-Lepr^fa-/-/Slc ZSF1-Lepr^fa/cp/Crl ZUC-Lepr^fa ZUC-Lepr^faSte-/-

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences

Additional Information

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Mammalian Phenotype