A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
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Acute and chronic alcohol exposure was analyzed in 534 (C57BL/6J x C3H/HeJ)F2 mice. Behavioral testing was done using 5 traits, acute drug effect, forced ethanol drinking, withdrawal studies ethanol preference and stress induced ethanol drinking. The following QTL were found in a genome wide scan: Following the QTL is the Chromosome , cM location, and LOD score, Eih1 (Chr 1, 85 cM, LOD 6.6), Eih2 (Chr 7, 10 cM, LOD 3.6), Ceih1 (Chr 3, 55 cM, LOD 4.1), Ceih2 (Chr 6, 24.7 cM, LOD 4.1), Ceih3 (Chr 13, 39 cM, LOD 4.1), Eia1(Chr 1, 65 cM, LOD 10.3 and 10.4), Eiwa1 (Chr 7, 50 cM, LOD 4.4), Eiwa2(Chr 11, 43.1 cM, LOD 4.1),Aldd1(Chr 5, 42 cM, LOD 13.2), Aldd2(Chr 12, 18 cM, LOD 5.3),Eiwax1(Chr 1, 79 cM, LOD 6.5), Eiwax2(Chr 5, 59 cM, LOD 15.0), Eiwax3(Chr 12, 21 cM, LOD 3.6), Methp1(Chr 16, 31.4 cM, LOD 4.3), Mec1(Chr 16, 19.4 cM, LOD 5.1), Epbs1(Chr 16, 33 cM, LOD 4.1), Ecbs1(Chr 16, 29.4 cM, LOD 4.8), Mec2(Chr 1, 109 cM, LOD 3.9), Mec3(Chr 2, 109 cM, LOD 4.3), Mec4(Chr 5, 29 cM, LOD 3.9), Mec5(Chr 10, 2 cM, LOD 5.0), Mec6(Chr 15, 49 cM, LOD 5.2, 95% CI 6.7–56.7).
Authors:
Drews E, Rcz I, Lacava AD, Barth A, Bilkei-Gorz A, Wienker TF, Zimmer A
Linkage analysis was performed on a series of Recombinant QTL Introgression (RQI) strains (derived from C57BL/6ByJ and BALB/cJ) to identify QTLs associated with alcohol preference. Male animals from each of 13 RQI strains were tested for 12% alcohol preference and genotyped at 244 polymorphic loci with an average spacing of 6.6 cM. Progenitor strain C57BL/6ByJ exhibits higher alcohol preference than progenitor strain BALB/cJ. Significant linkage to 12% alcohol preference (P<0.0002) mapped to a region of mouse Chromosome 15 spanning markers D15Mit159 (49.6 cM), D15Mit34 (52.2 cM), and D15Mit242 (55.6 cM). The experiment was done in duplicate and the same 3 chromosome 15 markers were detected each time. This locus is named Alprf (alcohol preference.) BALB/cJ-derived alleles confer increased alcohol preference at this locus. Potential candidate genes mapping near Alprf include Ecgf1 (51.6 cM), Cntn1 (55.1 cM), Kif21a (55.1 cM), Pou6f1 (56.6 cM), and Aqp5 (56.8 cM).
Authors:
Vadasz C, Saito M, Balla A, Kiraly I, Vadasz C 2nd, Gyetvai B, Mikics E, Pierson D, Brown D, Nelson JC
Ethanol Preference from BXD lines span 58586243-108586243. This interval was obtained by using an arbitrary interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org). Marker Loci associated with 10% Ethanol Preferences Drinking at p<0.05 (Two Tailed) in the BXD RI set and the Correlation Coefficient, p and Estimated LOD. D15Mit33 (83586243 NCBI 37) p=0.05, LOD=0.08 overall LOD BXD & Select Line 2.4.
QTL for Voluntary Ethanol Consumption on LS x SS RI lines spans 43765164-93765164 .This interval was obtained by using an arbitrary interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org). Chr 15 D15Mit3 39 cM VEC (females) 0.02
In the present study Aaq1, a previously mapped QTL on mouse Chromosome 15 linked to alcohol acceptance, is confirmed using a (C57BL/6J x DBA/2J)F2 population. Aaq1 mapped to 15 cM (D15Mit60)- 48 cM (D15Mit34) on mouse Chromosome 15 with a peak LOD score of 3.8 at approximately 30 cM. C57BL/6J-derived alleles confer increased alcohol acceptance in a dominant fashion at Aaq1. A potential candidate gene for Aaq1 is the peripheral benzodiazepine receptor gene, Bzrp.
Authors:
McClearn GE, Tarantino LM, Rodriguez LA, Jones BC, Blizard DA, Plomin R
QTL mapping results for B6D2F2 mice in regions provisionally identified in BXD RI mice for free-choice ethanol consumption. Peak D15Mit33 58586243-108586243. This interval was obtained by using an arbitrary interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org)
Genes associated with Homo sapiens that interact with the MeSH term 'Theophylline' (D013806). Incorporates data from 15 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Vinca Alkaloids' (D014748). Incorporates data from 1138 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Copper Sulfate' (D019327). Incorporates data from 72 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Cyclosporine' (D016572). Incorporates data from 1 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Hydrogen Peroxide' (D006861). Incorporates data from 4 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Perca flavescens that interact with the MeSH term 'Copper' (D003300). Incorporates data from 2 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Vincristine' (D014750). Incorporates data from 2 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Selenium' (D012643). Incorporates data from 99 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Atrazine' (D001280). Incorporates data from 48 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Ethyl Methanesulfonate' (D005020). Incorporates data from 1 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Reactive Oxygen Species' (D017382). Incorporates data from 3 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Bezafibrate' (D001629). Incorporates data from 9 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Nickel' (D009532). Incorporates data from 166 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Oreochromis aureus x Oreochromis niloticus that interact with the MeSH term 'cupric chloride' (C029892). Incorporates data from 4 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Methyl Methanesulfonate' (D008741). Incorporates data from 2 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
Genes associated with Homo sapiens that interact with the MeSH term 'Acetaminophen' (D000082). Incorporates data from 1 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
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