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Table 5 Selected Mouse Genes-Disease Phenotypes

From: Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

Mouse Gene Sym. Human Ortholog Gene Sym. Mouse Phenotype 1 Mouse Phenotype 2 Mouse Phenotype 3 Mouse Phenotype 4 Mouse Phenotype 5
A4galt A4GALT abnormal induced morb./mort. abnormal resp./metab. to xenobiotics life span-post-weaning/aging homeostasis/metab. phenotype  
Abca2 ABCA2 tremors decreased body weight behavior/neurological phenotype hyperactivity increased startle reflex
Abcc2 ABCC2 abnormal blood chemistry abnormal liver physiology abnormal urine chemistry abnormal kidney physiology Abn. resp./metabolism to xenobiotics
Abi2 ABI2 abn. corpus callosum morph. abnormal cerebral cortex morph. abnormal hippocampus morph. abnormal dentate gyrus morph. microphthalmia
Acaca ACACA abnormal liver physiology abnormal lipid level incr. circulating free fatty acid level hyperglycemia embryonic growth arrest
Acads ACADS hypoglycemia behavior/neurological phenotype abnormal drinking behavior abnormal food preference abnormal urine chemistry
Accn1 ACCN1 retinal degeneration vision/eye phenotype abnormal eye electrophysiology   
Adad1 ADAD1 impaired fertilization male infertility asthenozoospermia oligozoospermia reproductive system phenotype
Adam23 ADAM23 tremors behavior/neurological phenotype ataxia postnatal lethality lethality-postnatal
Adarb1 ADARB1 behavior/neurological phenot. seizures postnatal lethality behavior/neurological phenotype normal phenotype
Adipoq ADIPOQ vasculature congestion increased body weight decreased body weight abnormal CNS syn. transmission abnormal coat appearance
Adora1 ADORA1 behavior/neurological phenot. increased anxiety-related response abnormal body temperature regulation abnormal angiogenesis abnormal nervous system electrophys.
Ager AGER increased bone density abnormal cancellous bone morph. abnormal blood chemistry reproductive system phenotype abnormal cell proliferation
Akap1 AKAP1 reduced female fertility decreased litter size abnormal female meiosis increased cholesterol level  
Apoc1 APOC1 abnormal circ. cholesterol level abnormal lipid level increased circulating triglyceride level abnormal immune sys. Morph. abnormal bile composition
B2m B2M decreased hematocrit abnormal interleukin-10 physiology rectal prolapse abnormal dorsal root gang. morph. enlarged spleen
Bax BAX enlarged spleen increased thymocyte number abnormal motor neuron morph. short snout abnormal sympathetic neuron morph.
Bcl2 BCL2 small ears absent melanin granules in hair follicle abnormal snout morph. herniated abdominal wall abnormal small intestine morph.
Bmp1 BMP1 abnormal heart morph. abnormal aorta morph. abnormal ventricular septum morph. abnormal awl hair prenatal lethality
Brca1 BRCA1 abnormal cell death increased cell proliferation decreased cell proliferation decreased anxiety-related resp. kinked tail
Capn10 CAPN10 abnormal pancreas physiology endocrine/exocrine gland phenotype digestive/alimentary phenotype decreased inflammatory response  
Casp1 CASP1 abnormal apoptosis abnormal induced morbidity/mortality abnormal inflammatory response decr. suscep. to endotoxin shock tumorigenesis
Ccr4 CCR4 immune system phenotype decreased tumor necrosis factor secr. decreased interleukin-1 beta secretion abnormal induced morbid./mort.  
Dusp1 DUSP1 thick alveolar septum abnormal circ. alanine transaminase hypotension increased thymocyte number lung inflammation
E2f1 E2F1 abnormal cell death decreased salivation enlarged thymus pale liver exencephaly
Epo EPO abnormal erythropoiesis abnormal pericardium morph. small liver postnatal growth retardation abnormal hepatocyte morph.
Ercc4 ERCC4 abnormal cell content/morph. abnormal liver morph. decreased body weight absent blood islands liver/biliary system phenotype
F5 F5 behavior/neurological phenot. abnormal somite development abnormal yolk sac morph. increased suscep. to bact. Infect. hemorrhage
Fcgr1 FCGR1A impaired macrophage phagocyt. abnormal inflammatory response decreased inflammatory response abnormal yolk sac morph. abnormal cell-mediated immunity
Foxo1 FOXO1 absent organized vascular net. abnormal looping morphogenesis abnormal vasculature exencephaly absent vitelline blood vessels
Gadd45a GADD45A decreased leukocyte cell num. increased cell proliferation increased thymocyte number postnatal lethality skin irradiation sensitivity
Gap43 GAP43 decreased body weight abnormal optic nerve innervation absent optic tract abnormal erythropoiesis nervous system phenotype
Gata1 GATA1 decreased hematocrit abnormal thrombopoiesis extramedullary hematopoiesis overexpanded resp. alveoli liver hypoplasia
Grin1 GRIN1 abn. trigeminal nerve morph. atelectasis lung hemorrhage abnormal tympanic ring morph. decreased body weight
Hoxa1 HOXA1 small ears abnormal inner ear morph. abnormal malleus morph. increased susceptibility to injury abnormal cochlea morph.
Hspa1a HSPA1A decreased body weight increased cell. Sens. to gamma-irrad. chromosome breakage increased body weight homeostasis/metabolism phenotype
Icam1 ICAM1 increased leukocyte cell number increased neutrophil cell number increased monocyte cell number abnormal spatial learning abnormal retina morph.
Igbp1 IGBP1 decreased thymocyte number behavior/neurological phenotype abnormal cued conditioning behavior intestinal ulcer abnormal thymus lobule morph.
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