Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| carotid artery mean blood pressure measurement | EFO_0007723 | [Quantification of mean blood pressure in the carotid artery] |
| gamma-glutamylcysteine synthetase deficiency | MONDO_0009259 | [Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.] |
| inherited glutathione metabolism disease | MONDO_0040566 | [An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process.] |
| carotid artery wall cross sectional area measurement | EFO_0007722 | [Quantification of the area of a cross section of the carotid artery's wall] |
| classic galactosemia | MONDO_0009258 | [Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.] |
| NZO/HlLtJ | EFO_0007729 | [NZO mice of both sexes exhibit high birth weights and are significantly heavier at weaning age. Severe obesity (including both visceral and subcuatneous fat depots) develops even when mice are maintained on a standard diet containing 4.5% fat. Both males and females of the NZO/Hl substrain exhibit impaired glucose tolerance (IGT), but subsequent type 2 maturity onset (NIDDM) diabetes development is limited to males, with a phenotype penetrance of 50% or less. NZO/Hl mice also show anti-insulin receptor antibodies, a defect in leptin transport, and hypertension. The genetic lesion appears to be within the islets of Langerhans as transfer of pancreatic islets from normal mice returns body weights and blood glucose levels to within normal range. Ovarian granulosa cell tumors, lymphomas, duodenal, and lung tumors have also been noted to occur in NZO mice at an elevated frequency. F1 hybrids of NON/ShiLt and NZO/Hl provide a new model of obesity-induced diabetes. Male (NON/ShiLt x NZO/Hl)F1 hybrids are obese (BW = 53.5 g by 16 weeks) and almost all develop maturity onset NIDDM. F1 males on a 4% diet will develop hyperglycemia around 20 to 24 weeks of age; increasing the fat content of the diet accelerates diabetes onset to 16 to 20 weeks of age. (NZO/Hl x NON/ShiLt)F1 hybrids will develop diabetes slightly faster than their reciprocal cross due to the NZO maternal environment; however this cross is difficult to produce due to the inherently poor breeding performance of NZO/HlJ female mice. F1 females exhibit a weight gain similar to the NZO parent, and have impaired glucose tolerance but are resistant to diabetes development. Diabetes development can be accelerated to eight to 12 weeks by fostering onto an F1 dam. Reciprocal backcrosses to the parental strains and analysis of (NON/ShiLt x NZO/Hl)F2 mice has led to the identification of a number of complex diabetes-predisposing ("diabesity") QTLs. Dr. Leiter's research group at The Jackson Laboratory is currently developing a series of nine recombinant congenic strains (RCS) made by backcrossing the (NZO/Hl x NON/ShiLt)F1 for two generations onto the NON/ShiLt background before inbreeding (~12% NZO/Hl, 88% NON/ShiLt genomes). Preliminary analysis indicates that body weight gains of all RCS are higher than NON/ShiLt, but none are as obese as NZO/Hl; some of these RCS develop NIDDM while others are resistant. These new strains will be useful to further analyze diabesity QTLs and as new models for type 2 (NIDDM) diabetes. An additional benefit of the RCS is better breeding performance than NZO/Hl.] |
| galactose epimerase deficiency | MONDO_0009257 | [Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.] |
| FVB/NJ | EFO_0007728 | [FVB/NJ was inbred for the Fv1b allele which confers sensitivity to the Friend leukemia virus B strain. Due to the prominent pronuclei in their fertilized eggs and the large litter size, FVB/NJ mice are commonly used for transgenic injection. Compared to many other inbred strains, FVB/NJ is highly susceptible to asthma-like airway responsiveness with significant generation of antigen-specific IgE. Despite having the H2q MHC haplotype, FVB/NJ are resistant to collagen-induced arthritis. This resistance stems from coding polymorphisms in Tcra-V11.1 and a genomic deletion of some Tcrb-V genes that includes Tcrb-V8.2. FVB/NJ have higher than average activity, anxiety, and basal body temperature, low stress-induced hyperthermia, and are homozygous for the Pde6brd1 allele, which results in early onset retinal degeneration. Although FVB/N typically do not develop spontaneous tumors, they are highly susceptible to chemically induced squamous cell carcinomas with a high rate of malignant conversion from papilloma to carcinoma. ] |
| CAST/EiJ | EFO_0007727 | [ Both CAST/EiJ and CASA/RkJ (Stock No. 000735) were derived from wild mice trapped in Thailand. CAST is often combined with the common laboratory strains to generate F1 hybrids with high levels of heterozygosity for use in genetic mapping. Unlike the wild-derived strain SPRET, male F1 mice from a CAST cross are fertile. Like CASA, CAST is resistant to flavivirus infection. The flavivirus family includes pathogens responsible for dengue, yellow fever and several forms of encephalitis. Most common laboratory mice are sensitive to flavivirus infection. Resistance/sensitivity is conferred through the oligoA synthase Oas1b locus. In a comparison of multiple strains, CASA and CAST exhibit reduced numbers of retinal ganglion cells as compared to common laboratory strains and other wild-derived strains. In a 2015 study comparing CAST/Ei and the other Collaborative Cross inbred strains (A/J, C3H/HeJ, C57BL/6J, DBA/2J, 129S1/SvImJ, NOD/LtJ, NZO/HlLtJ, and WSB/EiJ), dorsal root ganglion neurons from CAST/Ei mice demonstrate a significantly improved ability to regenerate axons in an inhibitory environment as determined by an increase in number of neurons with neurites and longer axonal process per neuron under both naive and pre-injured conditions. In addition, as compared to neurons from C57BL/6 mice, CAST/Ei neurons exhibit more extensive axonal regeneration in the spinal cord and optic nerve following injury and show greater sprouting following ischemic stroke. Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research. ] |
| soft tissue amyloid neoplasm | MONDO_0024892 | [A soft tissue neoplasm composed of acellular amyloid material.] |
| galactokinase deficiency | MONDO_0009255 | [Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.] |
| AKR/J | EFO_0007726 | [Originally inbred at the Rockefeller Institute, AKR mice are widely used in cancer research for their high leukemia incidence (60-90%) and in immunology as a source of the Thy1.1 (theta AKR) antigen. AKR/J mice are viremic from birth, and express the ecotropic retrovirus AKV in all tissues. The hair interior defect (hid) mutation, a strain characteristic of AKR mice, causes alterations in hair development that is only evident microscopically. Adrenocortical lipid depletion (ald) in AKR mice is caused by a mutation in sterol O-acyltransferase 1 (Soat1), and leads to a truncated SOAT1 protein. AKR/J mice are relatively resistant to aortic lesion formation on a semi-synthetic high fat diet and are hyporesponsive to diets containing high levels of fat and cholesterol.] |
| fucosidosis | MONDO_0009254 | [Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.] |
| gapo syndrome | MONDO_0009263 | [GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations] |
| Neurologic Waardenburg-Shah syndrome | Orphanet_163746 | |
| Pigmentation disorder with eye involvement, excluding albinism | Orphanet_98708 | |
| p-tau:beta-amyloid 1-42 ratio measurement | EFO_0007709 | [quantification of the ratio of p-tau protein to beta-amyloid 1-42 protein in a sample] |
| GM1 gangliosidosis type 3 | MONDO_0009262 | [GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.] |
| diabetes mellitus, insulin-dependent, X-linked, susceptibility to | MONDO_0010255 | |
| t-tau:beta-amyloid 1-42 ratio measurement | EFO_0007708 | [quantification of the ratio of t-tau protein to beta-amyloid 1-42 protein in a sample] |