RGD Reference Report - The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein. - Rat Genome Database

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The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein.

Authors: Phan, LK  Lin, F  LeDuc, CA  Chung, WK  Leibel, RL 
Citation: Phan LK, etal., J Clin Invest 2002 Nov;110(10):1449-59.
RGD ID: 1556820
Pubmed: PMID:12438443   (View Abstract at PubMed)
PMCID: PMC151815   (View Article at PubMed Central)
DOI: DOI:10.1172/JCI16131   (Journal Full-text)

The mouse coat color mutant mahoganoid (md) darkens coat color and decreases the obesity of A(y) mice that ectopically overexpress agouti-signaling protein. The phenotypic effects of md are similar to those of the recently identified coat color mutant mahogany (Atrn(mg)). We report the positional cloning of mahoganoid, encoding a novel 494-amino acid protein containing a C3HC4 RING (really interesting new gene) domain that may function as an E3 ubiquitin ligase. The mutations in the mahoganoid allelic series (md, md(2J), md(5J)) are all due to large retroviral insertions. In md and md(2J), the result is minimal expression of the normal size transcripts in all tissues examined. Unlike Atrn(mg/)Atrn(mg) animals, we observe no evidence of neurological deficit or neuropathology in md/md mice. Body weight and body mass index (a surrogate for adiposity) measurements of B6.C3H-md-A md/+ and md/md animals on 9% and 45% kcal fat diets indicate that mahoganoid does not suppress body weight in B6.C3H animals in a gene dose-dependent fashion. Mahoganoid effects on energy homeostasis are, therefore, most evident in the circumstances of epistasis to hypothalamic overexpression of ASP in A(y) and possible other obesity-causing mutations.



Objects referenced in this article
Gene Adcy9 adenylate cyclase 9 Mus musculus
Gene Anks3 ankyrin repeat and sterile alpha motif domain containing 3 Mus musculus
Gene Cdip1 cell death inducing Trp53 target 1 Mus musculus
Gene Coro7 coronin 7 Mus musculus
Gene Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 Mus musculus
Gene Dnase1 deoxyribonuclease I Mus musculus
Gene Glis2 GLIS family zinc finger 2 Mus musculus
Gene Glyr1 glyoxylate reductase 1 homolog (Arabidopsis) Mus musculus
Gene Hmox2 heme oxygenase 2 Mus musculus
Gene Mefv Mediterranean fever Mus musculus
Gene Mgrn1 mahogunin, ring finger 1 Mus musculus
Gene Nmral1 NmrA-like family domain containing 1 Mus musculus
Gene Or2c1 olfactory receptor family 2 subfamily C member 1 Mus musculus
Gene Pam16 presequence translocase-asssociated motor 16 Mus musculus
Gene Ppl periplakin Mus musculus
Gene Tfap4 transcription factor AP4 Mus musculus
Gene Trap1 TNF receptor-associated protein 1 Mus musculus
Gene Zfp263 zinc finger protein 263 Mus musculus

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