RGD Reference Report - Substitution at codon 269 (glutamine --> proline) of the leptin receptor (OB-R) cDNA is the only mutation found in the Zucker fatty (fa/fa) rat. - Rat Genome Database

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Substitution at codon 269 (glutamine --> proline) of the leptin receptor (OB-R) cDNA is the only mutation found in the Zucker fatty (fa/fa) rat.

Authors: Iida, M  Murakami, T  Ishida, K  Mizuno, A  Kuwajima, M  Shima, K 
Citation: Iida M, etal., Biochem Biophys Res Commun 1996 Jul 16;224(2):597-604.
RGD ID: 729297
Pubmed: PMID:8702432   (View Abstract at PubMed)
DOI: DOI:10.1006/bbrc.1996.1070   (Journal Full-text)

We recently cloned one of spliced variant forms of rat leptin receptor (OB-R), which contains a short intracellular domain, and found obese-phenotype-linked nucleotide alteration in the extracellular domain of the cDNA from the Zucker (fa/fa) rat, which results in a glutamine269 to proline269 amino acid substitution. Reported herein are the cloning and sequencing of another spliced variant forms of rat OB-R cDNA with a long intracellular domain. Both forms of OB-R cDNA share the same extracellular domain. In the Zucker (fa/fa) rat, no changes in either the gene structure nor in the nucleotide sequence of the long intracellular domain were observed. However, the expression level of OB-R mRNA in the brain of Zucker (fa/fa) rat was higher than for lean littermates. These facts suggest that the substitution at codon 269 of the OB-R cDNA represents the crucial mutation which results in the obese phenotype of Zucker (fa/fa) rat.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
LEPRHumanobesity  ISOLepr (Rattus norvegicus)DNA:missense mutation:CDS:p.Q269P (rat)RGD 
LeprRatobesity  IAGP DNA:missense mutation:CDS:p.Q269P (rat)RGD 
LeprMouseobesity  ISOLepr (Rattus norvegicus)DNA:missense mutation: :p.Q269P (rat)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lepr  (leptin receptor)

Genes (Mus musculus)
Lepr  (leptin receptor)

Genes (Homo sapiens)
LEPR  (leptin receptor)


Additional Information