Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
WSB/EiJ	EFO_0007731	[Watkins Star Line B (WSB) was derived from wild mice trapped in Eastern Shore, Maryland. WSB is characterized by a distinct and consistent white head blaze, variable ventral spotting and a slight coat dilution on the agouti background. The variation in pigment is the result of the spontaneous mutation blaze (Kitlblz).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.]
PWK/PhJ	EFO_0007730	[PWK was derived from wild mice trapped near Prague, Czech Republic. PWK has a biochemical profile that is similar to the inbred strain PWD (also originating from the Czech Republic - Stock No. 004660) with the exception of the isoenzyme variant esterase 13 (Es13b). 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.]
NOD/ShiLtJ	EFO_0007736	[Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, "accelerated transfer" of IDDM, and some in vitro studies. The major component of diabetes susceptibility in NOD mice is the unique MHC haplotype (H2g7 = Kd, Aad, Abg7, Enull, Db). NOD mice also exhibit multiple aberrant immunophenotypes including defective antigen presenting cell immunoregulatory functions, defects in the regulation of theT lymphocyte repertoire, defective NK cell function, defective cytokine production from macrophages (Fan et al., 2004) and impaired wound healing. They also lack hemolytic complement, C5. NOD/ShiLtJ mice also are severely hearing-impaired. A variety of mutations causing immunodeficiencies, targeted mutations in cytokine genes, as well as transgenes affecting immune functions, have been backcrossed into the NOD/ShiLt inbred strain background. Diabetes onset was monitored weekly between the ages of 3 and 30 weeks in 120 male and 120 female NOD/ShiLtJ bred in the Bar Harbor and Sacramento facilities. Mice were fed a 6% fat diet (LabDiet 5K0Q, St. Louis MO), ad libitum. Diabetes was defined by a non-fasting blood glucose level exceeding 250 mg/dL. Blood was sampled from the submandibular route and analyzed using a OneTouch Ultra 2 handheld glucometer that was validated using a control solution on each measurement day. Data were combined from three independent studies, each involving 40 males and 40 females. The median female onset was 17 weeks in each study, and the Kaplan-Meier curves from the individual studies did not differ significantly. ]
CBA/J	EFO_0007735	[CBA/J inbred mice are widely used as a general purpose strain. CBA/J strain is the only CBA substrain that carries the Pde6brd1 mutation, which causes blindness by wean age. CBA/J mice are not histocompatible with the CBA/CaJ (Stock No. 000654) substrain (Green and Kaufer, 1965). The CBA/J inbred mouse strain is used to study granulomatous experimental autoimmune thyroiditis (G-EAT), are relatively resistant to diet-induced atherosclerosis (Paigen et al. 1990), and develop a mild hearing loss late in life, with most of the hearing loss occurring in the higher frequencies (Sweet et al. 1988). Renal tubulointerstitial lesions have been observed in this strain at a high frequency (Rudofsky 1978). Some CBA/J mice spontaneously develop exocrine pancreatic insufficiency syndrome (Eppig and Leiter 1977, Leiter et al. 1977). ]
SPRET/EiJ	EFO_0007734	[The wild-derived inbred strain SPRET/Ei is often used in crosses with common inbred strains to create highly polymorphic panels for genetic mapping. SPRET/Ei mice are resistant to high doses of tumor necrosis factor alpha (TNFa) (Staelens et al 2002). Mice from a C57BL/6 x SPRET/Ei F1 cross were protected from TNFa-induced arthritis and partially protected against induced allergic asthma (Staelens et al 2004). SPRET/Ei may be useful in understanding certain inflammatory diseases.]
Mus spretus	NCBITaxon_10096
LP/J	EFO_0007733	[LP/J mice display a high susceptibility to audiogenic seizures. This strain is also reported to have a fairly high incidence of tumors that develop later in life, including mammary tumors, lymphoma, lung and soft-tissue sarcomas. LP/J mice are also homozygous for the spontaneous mutation piebald in the endothelin receptor type B gene (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye.]
left superior temporal gyrus thickness measurement	EFO_0007739	[quantification of the thickness of the grey matter in the left superior temporal gyrus]
cortical thickness	EFO_0004840	[Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions]
Ataxia - oculomotor apraxia type 1	Orphanet_1168	[Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy.]
Oculomotor apraxia or related oculomotor disease	Orphanet_98688
cingulate cortex measurement	EFO_0007738	[quantification of some aspect of the cingulate cortex, a part of the brain situated in the medial aspect of the cerebral cortex]
glycogen storage disease Ib	MONDO_0009288	[A type of glycogenosis due to G6P deficiency.]
glycogen storage disease type 1 due to SLC37A4 mutation	MONDO_0023258	[Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.]
BMI-adjusted adiponectin measurement	EFO_0007737	[Adiponection measurement that has been adjusted by subjects’ body mass index by performing linear regressions for adiponectin against BMI ]
adiponectin measurement	EFO_0004502	[Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 μg/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases.]
glycogen storage disease due to glucose-6-phosphatase deficiency type IA	MONDO_0009287	[Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.]
familial renal glucosuria	MONDO_0009297	[Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).]
syndromic X-linked intellectual disability Siderius type	MONDO_0010286
syndromic X-linked intellectual disability Abidi type	MONDO_0010285	[X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.]