Table 2 GO-terms and functions observed in knock-out mice of 31 potential candidates from QTL intervals
Qivr | Gene symbol | Gene description | Function | KO phenotype | Type polymorphism in ORF |
|---|---|---|---|---|---|
Qivr2-2 | Itgb6 | integrin beta 6 | Integrin-mediated signaling pathway, inflammatory response, cell-matrix adhesion | Baldness associated with macrophage infiltration of skin, exaggerated pulmonary inflammation, impaired mucosal mast cell response to nematode infection. | ns (1) |
Qivr2-2 | Ifih1 | interferon induced with helicase C domain 1 | Response to virus, innate immune response, regulation of apoptosis, RIG-I-like receptor signaling pathway | Increased virus-associated morbidity and mortality, decreased cytokine response to several viral infection. | ns (5) |
Qivr5 | Eif3b | eukaryotic translation initiation factor 3, subunit B | Translation, translation initiation | NA | ns (1) |
Qivr5 | Sdk1 | sidekick homolog 1 (chicken) | Cell adhesion | NA | ns (1) |
Qivr5 | Eif2ak1 | eukaryotic translation initiation factor 2 alpha kinase 1 | Negative regulation of translation, response to stress, negative regulation of cell proliferation, regulation of eIF2 alpha phosphorylation by heme | Enlarged heart size, abnormal red blood cell development, morphology, physiology with macrocytic anemia. | ns (1) |
Qivr5 | Rnf6 | ring finger protein (C3H2C3 type) 6 | Ubiquitin-dependent protein catabolic process, positive regulation of transcription, DNA-dependent | NA | ns (2) |
Qivr16 | Robo1 | roundabout homolog 1 (Drosophila) | Cell differentiation, axon guidance, chemotaxis | Neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. | insertion |
Qivr16 | Nrip1 | Nuclear receptor interaacting protein 1 | Regulation of transcription | Female infertility due to ovulation failure. Male and female mice are smaller than wild-type littermates. | ns (1) |
Qivr16 | Usp25 | ubiquitin specific peptidase 25 | Ubiquitin-dependent protein catabolic process | NA | ns (1) |
Qivr17-1 | Cryaa | crystallin, alpha A | Negative regulation of apoptosis, negative regulation of caspase activity, lens fiber cell morphogenesis | Small lenses that develop progressive opacity beginning in the nucleus. | no |
Qivr17-2 | Snf1lk/Sik1 | SNF1-like kinase | Negative regulation of transcription from RNA polymerase II promoter, regulation of cell differentiation, protein kinase cascade | NA | no |
Qivr17-2 | March2 | membrane-associated ring finger (C3HC4) 2 | Endocytosis, biological process | NA | no |
Qivr17-2 | Tapbp | TAP binding protein | Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; defense response | Reduced and thermolabile MHC class I surface expression due to impaired peptide loading with stabilizing peptides, impaired T cell selection, altered NK repertoire, lower CD8+ T cell numbers, impaired responses to select class I-restricted antigens. | ns (1) |
Qivr17-2 | H2-Oa | histocompatibility 2, O region alpha locus | Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II, regulation of T cell differentiation, Graft-versus-host disease, viral myocarditis | Abnormal antigen presentation via MHC class II, enhanced selection of CD4+ single positive thymocytes. Mice homozygous for a different knock-out allele show increased serum IgG1 levels. | ns (1) |
Qivr17-2 | H2-DMa | histocompatibility 2, class II, locus DMa | Antigen processing and presentation of exogenous peptide antigen via MHC class II, positive regulation of T cell differentiation, positive regulation of immune response, Graft-versus-host disease, viral myocarditis | Impaired antigen presenting cell function, poor IgG responses to T-dependent antigens, reduced numbers of mature CD4+ T cells, increased susceptibility to Leishmania major infection. | ns (2) |
Qivr17-2 | Tap2 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | Antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; positive regulation of T cell mediated cytotoxicity, protection from natural killer cell mediated cytotoxicity | No CD8+ T cells, although numbers of CD4+ T cells and B cells are normal. | ns (6) |
Qivr17-2 | H2-Ob | histocompatibility 2, O region beta locus | Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II, Graft-versus-host disease, viral myocarditis | NA | ns (7) |
Qivr17-2 | H2-Ab1 | histocompatibility 2, class II antigen A, beta 1 | Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II, Graft-versus-host disease, viral myocarditis | Depletion of mature CD4+ T cells, deficiency in cell-mediated immune responses, increased susceptibility to viral infections. | ns (9) stop_L |
Qivr17-2 | H2-Aa | histocompatibility 2, class II antigen A, alpha | Antigen processing and presentation of exogenous peptide antigen via MHC class II, positive regulation of T cell differentiation, Graft-versus-host disease, viral myocarditis | Lack of cell surface expression of MHC class II molecules on macrophages, decreased CD4-positive T cell number, increased CD8-positive T cell number, thymus hyperplasia, enlarged lymph nodes, altered splenocyte response to staphylococcal enterotoxin B. | ns (10) |
Qivr17-2 | Lst1 | leukocyte specific transcript 1 | Negative regulation of lymphocyte proliferation, immune response, cell morphogenesis | NA | ns (1) deletion |
Qivr17-2 | Gtf2h4 | general transcription factor II H, polypeptide 4 | Regulation of transcription, DNA-dependent | NA | ns (3) |
Qivr17-2 | H2-T23 | histocompatibility 2, T region locus 23 | Antigen processing and presentation of peptide antigen via MHC class I, Graft-versus-host disease, viral myocarditis | CD4+ T cells have enhanced responses after infection or immunization, are resistant to suppressor activity mediated by a subset of CD8+ T cells, but are more susceptible to NK cell lysis. | ns (3) |
Qivr17-2 | H2-Bl | histocompatibility 2, blastocyst | Antigen processing and presentation | NA | ns (4) stop_L |
Qivr17-2 | Rpp21 | ribonuclease P 21 subunit (human) | tRNA processing | NA | ns (1) stop_G |
Qivr17-2 | Trim26 | tripartite motif protein 26 | Biological process | NA | ns (1) |
Qivr17-2 | Pla2g7 | phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) | Inflammatory response, lipid catabolic process | NA | ns (1) |
Qivr17-2 | Cyp39a1 | cytochrome P450, family 39, subfamily a, polypeptide 1 | Lipid metabolic process, oxidation reduction | NA | ns (2) |
Qivr-19 | Sorbs1 | sorbin and SH3 domain containing 1 | Transport, focal adhesion assembly, positive regulation of establishment of protein localization in plasma membrane | Decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet. | ns (6) |
Qivr-19 | Tctn3 | tectonic family member 3 | Apoptosis | NA | ns (1) insertion (2) |
Qivr-19 | Hps1 | Hermansky-Pudlak syndrome 1 homolog (human) | Positive regulation of natural killer cell activation, secretion of lysosomal enzymes | Hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes, abnormal retinofugal neuronal projections characterize some alleles. | ns (6) |
Qivr-19 | Dnmbp | dynamin binding protein | Intracellular signaling cascade, regulation of Rho protein signal transduction | NA | ns (3) |