Table 2.
Mouse gene disruptions and phenotypes of ABC genes
| Symbol | Phenotype | Comment | Reference |
|---|---|---|---|
| Abca1 | HDL deficiency, foam cell accumulation | PMID: 10760292 | |
| HDL cholesterol levels | PMID: 18974039 | ||
| Abca2 | Multiple behavioral/neurological phenotypes | ||
| Decreased body weight | |||
| Abca3 | Abnormal lung development, morphology | ||
| Abca4 | Abnormal dark adaptation, photoreceptor morphology and degeneration | ||
| Vertebral fusion, respiratory quotient | |||
| Abca5 | Abnormal liver morphology and physiology | Lysosomal disease-like symptoms. | PMID: 15870284 |
| Tremors, cardiomyopathy, absent thyroid gland, decreased thyroid activity | |||
| Abca6 | Decreased circulating serum albumin, decreased total protein and increased hematocrit | jax.org/reference/J:211773 | |
| Abca7 | Decreased HDL cholesterol, adipose tissue, kidney size | ||
| Abca8a | nd | 2 null alleles, no reported phenotype | |
| Abca8b | Decreased cholesterol, HDL cholesterol, LDL cholesterol, and triglyceride levels | PMID:28882873 | |
| Abnormal eye morphology | PMID:28882873 | ||
| Abca9 | Abnormal behavioral response to light | Expression in embryo mesenchyme and CNS | jax.org/reference/J:211773 |
| Abca12 | Reddish, scaly, abnormal, tight skin | jax.org/reference/J:161652 | |
| Dehydration, no suckling reflex | jax.org/reference/J:262458 | ||
| Surfactant deficiency, lamellar body, alveolar collapse | jax.org/reference/J:139048 | ||
| Abca13 | Abnormal male genitalia morphology, decrease blood urea nitrogen level | jax.org/reference/J:211773 | |
| Abca14 | Decreased total body fat amount | Expression only in reproductive tract | jax.org/reference/J:211773 |
| Abca15 | nd | Expression only in reproductive tract | |
| Abca16 | nd | Expression only in reproductive tract | |
| Abca17 | Decreased circulating potassium level | jax.org/reference/J:211773 | |
| Abcb1a | Abnormal intestinal epithelium and ulcers, colitis | ||
| Xenobiotic sensitivity | |||
| Hippocampal neuronal degeneration, tremors | |||
| Abnormal immunoglobulin and T cell levels | |||
| Abcb1b | Abnormal xenobiotic sensitivity | ||
| Tap1/Abcb2 | Abnormal T cell levels, antigen presentation | ||
| Tap2/Abcb3 | Abnormal T cell levels, antigen presentation | ||
| Abcb4 | Abnormal bile secretion, bile salt level, gallstones | ||
| Decreased bone mineral density and morphology, calcium level | jax.org/reference/J:199949 | ||
| Liver cirrhosis, | |||
| Abcb5 | Abnormal cornea and retina morphology | jax.org/reference/J:213708 | |
| Abcb6 | Abnormal erythropoiesis, mitochondrial physiology | ||
| Abcb7 | Prenatal, postnatal lethality, hemorrhage, liver morphology | ||
| Abcb8 | Abnormal heart morphology, weight, cardiac output, cardiomyopathy, heart iron levels | ||
| Abcb9 | Small adrenal glands | jax.org/reference/J:211773 | |
| Abcb10 | Embryonic lethal, oxidative stress, abnormal mitochondrial physiology | ||
| Abcb11 | Abnormal bile secretion, bile salt level, enlarged liver, cholestasis | ||
| Abcc1 | Increased sensitivity to xenobiotics | ||
| Decreased inflammatory response, mast cell physiology | |||
| Abcc2 | Abnormal liver weight and physiology, bile secretion and composition | ||
| Increased sensitivity to xenobiotics | |||
| Abcc3 | Abnormal bile salt and bilirubin levels, bile salt homeostasis | ||
| Abnormal xenobiotic pharmacology | |||
| Abcc4 | Abnormal intestinal morphology, mucosa morphology and inflammation | ||
| Small spleen, thymus cortex hypoplasia | |||
| Abnormal blood-brain barrier function | |||
| Abcc5 | Decreased circulating glucose level | ||
| Decreased circulating eosinophils, leukocytes, and lymphocytes | |||
| Limb grasping | |||
| Abcc6 | Calcified arteries and retina, calcified skin, decreased HDL levels | ||
| Abnormal vibrissa follicle morphology | |||
| Cftr/Abcc7 | Abnormal intestinal development, lacrimal gland atrophy, pancreatic atrophy, | ||
| Postnatal lethality | |||
| Impaired fertilization, azoospermia, decreased litter size and sexual maturation | |||
| Abcc8 | Hypoglycemia, abnormal insulin secretion, circulating glucose | ||
| Abcc9 | Premature death | jax.org/reference/J:216539 | |
| Hypoglycemia, increased insulin sensitivity | jax.org/reference/J:71840 | ||
| Hypertension | jax.org/reference/J:78066 | ||
| Abcc10 | Decreased and abnormal spleen, decreased leukocytes and bone marrow cells, and body weight | ||
| Thymus cortex hypoplasia | |||
| Abcc12 | nd | ||
| Abcd1 | Abnormal myelination, brain cell morphology, astrocytosis, axon degeneration, impaired coordination | ||
| Cataract | |||
| Increased fatty acid, levels, lipid homeostasis | |||
| Abnormal adrenal cortex morphology | |||
| Abcd2 | Neuronal and axon degeneration, ataxia, hyperactivity, tremors, microglial cell morphology, posture, coordination | ||
| Abcd3 | Enlarged liver, abnormal bile composition | ||
| Abcd4 | Abnormal startle reflex, response to tactile stimulation, new environment | ||
| Abce1 | Compete embryonic lethal | ||
| Abcf1 | Embryonic lethality prior to jax.organogenesis | jax.org/reference/J:245222 | |
| Abcf2 | nd | ||
| Abcf3 | nd | ||
| Abcg1 | Abnormal blood cell levels, macrophage physiology, cytokine secretion | ||
| Hypoglycemia | |||
| Hyperactivity, increased energy expenditure | |||
| Abcg2 | Increased blood and urine uric acid, | ||
| Abnormal mitochondria morphology and oxidative phoshorylation, porphyria | |||
| Abcg3 | nd | ||
| Abcg4 | Abnormal lipid level | ||
| Abcg5 | Premature death at 4–6 months | trac allele | jax.org/reference/J:157223 |
| Abnormal lipid levels, bile secretion | knockout | jax.org/reference/J:87209 | |
| Male and female infertility | |||
| Abcg8 | Decreased cholesterol levels, circulating triglyceride levels | ||
Available phenotype data from the Mouse Genome Informatics Database (MGI) http://www.informatics.jax.org is shown. nd-not determined.