AutosomalMiceTransgenicDeafness and vestibularGeneHomozygousSpontaneousMRNAMutationsSham-operatedCongenitalGenesRecombinantRetinalSpontaneouslyBacterialProteinLociGeneticLaboratoryTissuesGlucoseEnzymesRetinaUptakeOnsetMouseChromosomeMetabolicExpressionWild-typeModelDoseNormalEarlyResultsNuclearMaleLevelsAnimalsTreatmentBrainStudiesDefining a new
Autosomal7
- These rats were jaundiced and the defect (a lack of the enzyme uridine diphosphate glucuronyltransferase) was transmitted as an autosomal recessive characteristic. (wikipedia.org)
- This disorder was found to be caused by an autosomal recessive gene and was designated tremor ( tm ). (kyoto-u.ac.jp)
- In parallel, we are designing viral mediated therapies for autosomal dominant and recessive retinal degnenerations. (berkeley.edu)
- Breeding results suggest an autosomal recessive mode of inheritance. (tno.nl)
- A recent study of autosomal recessive disease variants in a genetic isolate finds surprisingly high carrier frequencies for many of these variants [8] . (prolekarniky.cz)
- Autosomal recessive forms can be also divided into demyelinating (CMT4 or AR-CMT1) and axonal forms (AR-CMT2). (medscape.com)
- The autosomal recessive nude gene in homozygous (sp/sp) mice causes the lack of fur and an abnormal thymus. (taconic.com)
Mice6
- The latter include long-term/carcinogenicity studies in mice and rats, a three-generation reproduction in rats and teratology studies in rabbits, dogs and monkeys. (inchem.org)
- Results from this experiment were confirmed by those of a second test with groups of female mice of the same strain fed dietary levels of captan ranging from 500 to 16 000 ppm for up to 213 days. (inchem.org)
- Mutant mice develop skin lesions at the age of 5 to 6 weeks. (tno.nl)
- [4] Familiar albino animals include in-bred strains of laboratory animals (rats, mice and rabbits), but populations of naturally occurring albino animals exist in the wild, e.g. (wikipedia.org)
- Propylene oxide was tested for genotoxic effects in vivo in rats and mice. (europa.eu)
- In the C760R mutant mice DINE was expressed and localized in the somata of motor neurons but not in axons. (biomedcentral.com)
Transgenic1
- We have also developed transgenic rats, expressing dominant rhodopsin mutations. (berkeley.edu)
Deafness and vestibular1
- Spontaneous mutants lacking both isoforms show short stereocilia, severe deafness and vestibular deficits. (jax.org)
Gene5
- To date, most gene therapies have targeted monogenic recessive retinal diseases and employed viral vectors to transfer a 'normal ' copy of the mutated gene to the affected cell. (berkeley.edu)
- For recessive null diseases, gene replacement is an option. (berkeley.edu)
- Whole genome sequencing of the mutant rats identified the 195875980 G/A mutation in the Tuft1 (tuftelin 1) gene on chromosome 2, which resulted in a premature stop codon. (bvsalud.org)
- Transformation of znuA mutant with a shuttle vector pBBR1MCS-4 containing znuA gene restored the growth in zinc chelated medium and intracellular replication in HeLa cells and macrophages to a level comparable to that of wild-type strain. (go.jp)
- Via positional cloning, we show that mutations in a zebrafish LTCC encoding gene, cav1.3a , underlie the auditory-vestibular defects of gemini ( gem ) circler mutants. (jneurosci.org)
Homozygous1
- gem homozygous receptor mutant HCs display normal cell viability, afferent synaptogenesis, and peripheral innervation, yet exhibit strongly reduced extracellular potentials (∼50% of wild-type potentials). (jneurosci.org)
Spontaneous4
- In 1980, a spontaneous tremor mutant rat was found in the colony of Kyo:Wistar (Yamada, 1985). (kyoto-u.ac.jp)
- A new model of petit mal epilepsy: spontaneous spike and wave discharges in tremor rats. (kyoto-u.ac.jp)
- Previously, we reported on progressive retinal degeneration in a spontaneous obese rat (WNIN/Ob) model. (molvis.org)
- The NIH Animal Genetic Resource received the B6 Nude Spontaneous mutant model in 1980. (taconic.com)
MRNA2
- Another promising strategy for dominantly inherited retinal diseases involves directly targeting the mutant mRNA product using Talens, CRISPR , and siRNA constructs. (berkeley.edu)
- However, the functional consequences of the two mutations are distinct, with loss of axonal transport of ECEL1/DINE in C760R mutants and mRNA expression deficits in G607S mutants. (biomedcentral.com)
Mutations1
- Our mutant mouse data suggest that ECEL1/DINE G607S and C760R mutations both lead to motor innervation defects as primary causes in ECEL1 -mutated congenital contracture disorders. (biomedcentral.com)
Sham-operated2
- EVALUATION FOR ACCEPTABLE DAILY INTAKE BIOCHEMICAL ASPECTS Absorption, Distribution and Excretion In normal, sham-operated and partially hepatectomized male rats, the rate of elimination of a single dose or three daily doses of ( 35 S)-captan, at 6 mg/kg body weight given intraperitoneally, was similar. (inchem.org)
- Methods: UUO or sham-operated rats were randomly assigned to receive mycophenolate mofetil (MMF), Trip or vehicle and were killed on days 7 and 14 after UUO or sham operation. (vegfrinhibitors.com)
Congenital1
- Most congenital non-syndromic hearing loss is inherited as a recessive Mendelian disorder. (bmj.com)
Genes1
Recombinant1
- Recently, we identified a recessive mutation, an abnormal coat appearance in BXH6 strain, a member of the HXB/BXH set of recombinant inbred (RI) strains. (bvsalud.org)
Retinal7
- In particular, we have the examined retinal degeneration in the naturally arising rd mouse strains (defects in the b-subunit of phosphodiesterase). (berkeley.edu)
- These conditions include but are not limited to artery or vein occlusion in diabetic retinopathy, hypoxic retina in retinopathy of prematurity, aging in age-related macular degeneration, expression of mutant proteins in inherited retinal degeneration, traumatic injury leading to retinal detachment, and light sensitivity in the case of light-induced retinal degeneration. (molvis.org)
- In this study, we investigated the additional effect of impaired glucose tolerance (IGT), an essential component of MetS, on retinal degeneration using the WNIN/GR-Ob rat model. (molvis.org)
- The retinal morphology and ultrastructure of WNIN/GR-Ob and age-matched littermate lean rats were studied by microscopy and immunohistochemistry. (molvis.org)
- Immunohistochemical analysis showed decreased levels of rhodopsin and postsynaptic density protein-95 (PSD-95) proteins and increased levels of glial fibrillary acidic protein (GFAP), vascular endothelial growth factor (VEGF), and calretinin in WNIN/GR-Ob rats compared with the age-matched lean controls, further supporting cellular stress/damage and retinal degeneration. (molvis.org)
- WNIN/GR-Ob rats with added glucose intolerance developed retinal degeneration similar to the parent line WNIN/Ob. (molvis.org)
- The severity of retinal degeneration was greater in WNIN/GR-Ob rats compared to WNIN/Ob, suggesting a possible role for IGT in this model. (molvis.org)
Spontaneously2
- CNS Pathology in the neurological mutant rats zitter, tremor and zitter-tremor double mutant (spontaneously epileptic rat, SER). (kyoto-u.ac.jp)
- The RI strains were derived from the SHR (spontaneously hypertensive rat) and BN-Lx (Brown Norway rat) progenitors. (bvsalud.org)
Bacterial2
- 3. To create a repository of DNA modifying enzymes, DNA cloning vectors, novel bacterial strains and other such molecular tools for ready availability and use by various research groups at this centre and other DNA research laboratories in Pakistan. (edu.pk)
- Bacterial internalization into HeLa cells and macrophages and co-localization with either late endosomes or lysosomes of znuA mutant were not different from those of wild-type strain. (go.jp)
Protein5
- Moreover, we demonstrate that inducible tubular overexpression of mesencephalic astrocyte-derived neurotrophic factor (MANF), a secreted endoplasmic reticulum protein, after the onset of disease stimulates autophagy/mitophagy, clears mutant UMOD, and promotes mitochondrial biogenesis through p-AMPK enhancement, thus protecting kidney function in our ADTKD mouse model. (bvsalud.org)
- Preferential activation of microsomal diacylglycerol/protein kinase C signaling during glucose treatment (De Novo phospholipid synthesis) of rat adipocytes. (jci.org)
- Glucose has been reported to increase the de novo synthesis of diacylglycerol (DAG) and translocate and activate protein kinase C (PKC) in rat adipocytes. (jci.org)
- Effects on Other Biochemical Parameters Incubation of isolated liver nuclei from normal rats with captan for 10 minutes at 37 C resulted in changes in distribution of various protein fractions. (inchem.org)
- High-affinity zinc uptake system protein mutant ( znuA mutant) showed reduced growth in zinc chelated medium, and failed to replicate in HeLa cells and mouse bone marrow-derived macrophages. (go.jp)
Loci1
- The deafness segregating in family PKSN32 was not linked to any of the known recessive or dominant deafness loci (Hereditary Hearing Loss Homepage, http://dnalab-www.uia.ac.be/dnalab/hhh/ ). (bmj.com)
Genetic3
- Advances on Genetic Rat Models of Epilepsy. (kyoto-u.ac.jp)
- Hcn1 is a tremorgenic genetic component in a rat model of essential tremor. (kyoto-u.ac.jp)
- Conversely, genetic ablation of MANF in the mutant thick ascending limb tubular cells worsens autophagy suppression and kidney fibrosis. (bvsalud.org)
Laboratory2
- Dr. Charles Kenneth Gunn discovered a mutant rat in 1934 at the Connaught Laboratory in Toronto, Canada. (wikipedia.org)
- When the use of laboratory animal is obligatory, the most appropriate specie, breed, and strain with the closest homology to humans must be chosen. (ommegaonline.org)
Tissues1
- The pattern of distribution of 35 S-residues in tissues from these rats, sacrificed 75 hours after the single dose or 24 hours after the third daily dose, was also essentially the same with the highest concentration being detected in the blood and the lowest in brain. (inchem.org)
Glucose1
- Glucose rapidly increased DAG content and PKC enzyme activity in microsomes, but not in plasma membranes or other membranes, during a 30-min treatment of rat adipocytes. (jci.org)
Enzymes1
- 1975. [Effect of methyl parathion or zineb administration on the activity of some hepatic enzymes in rats]. (cdc.gov)
Retina1
- To understand the regulatory mechanisms of HSP under stress, we examined the expression of Hsp72, HSF1 and HSF2 in the adult rat retina after intravitreal injection of NMDA. (flt-3inhibitors.com)
Uptake1
- Apical FM1-43 uptake, however, is unaffected in gem mutant HCs, suggesting that mechanotransduction channels are functional. (jneurosci.org)
Onset1
- Progressive loss of photoreceptor cells was observed in WNIN/GR-Ob rats with an onset as early as 3 months. (molvis.org)
Mouse2
- A recessive mutation of ESPN is known to cause hearing loss and vestibular dysfunction in the jerker mouse. (bmj.com)
- In this study, we generated a new knock-in mouse strain that carries an ECEL1/DINE pathogenic G607S missense mutation, based on a previous study reporting atypical DA hindlimb phenotypes in two siblings with the mutation. (biomedcentral.com)
Chromosome2
- Families PKSN32 and PKSR5A are shown with the haplotypes of chromosome 1p36.3 STR markers. (bmj.com)
- Rats were exposed by inhalation at 50, 100, 200, or 400 ppm, and chromosome aberrations (GLP and similar to OECD guideline 475) and induction of micronuclei (GLP, and similar to OECD guideline 474) were assessed. (europa.eu)
Metabolic2
- Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. (kyoto-u.ac.jp)
- 1985), S. typhimurium strains TA 97, TA100, TA1535 and TA1537 were all positive (or equivocal) with or without S9 for metabolic activation. (europa.eu)
Expression1
- Gray triangles = other expression annotations only (e.g. absence of expression or data from mutants). (jax.org)
Wild-type2
- Compared to wild-type BXH6 rats, BXH6-Tuft1 mutant rats exhibited lower body weight due to reduced visceral fat and ectopic fat accumulation in the liver and heart. (bvsalud.org)
- Complementation of the pefE mutant with pefE is sufficient hacks restore immunity from wild-type killing, but is not sufficient to restore killing of non-immune strains. (xbrander.com)
Model1
- Conclusion: Trip significantly attenuated tubulointerstitial fibrosis in a rat UUO model and the effect of Trip on renal Sulfite dehydrogenase fibrosis was similar to that of MMF. (vegfrinhibitors.com)
Dose1
- 2000. Placental transfer and pharmacokinetics of a single dermal dose of [14C] methyl parathion in rats. (cdc.gov)
Normal1
- Following incubation with 35 S-captan, the rate of 35 S binding and the percentage of 35 S-labelled gas evolved were slightly higher in isolated liver nuclei from normal rats than from partially hepatectomized rats (Couch et al 1977). (inchem.org)
Early1
- 1983) evaluated pregnancy rate, corpora lutea , implantations, and early and deaths in rats that received repeat (5-d) inhalation administration of 300 ppm 7 h/d propylene oxide. (europa.eu)
Results1
- results were positive for E. coli WP2 uvrA and E. coli WP2 and negative for S. typhimurium TA 1538, the only strain tested. (europa.eu)
Nuclear1
- Similarly, thinning of the inner nuclear layer was observed from 6 months in these rats. (molvis.org)
Male1
- TOXICOLOGICAL STUDIES Special Studies on Reproduction Groups of 15 male and 30 female rats (Charles River COBS CD strain, 31 days old) were fed technical captan in their diet at the equivalent of 0, 25, 100, 250 or 500 mg/kg body weight/day for 102 days and then mated to initiate a three-generation reproduction study. (inchem.org)
Levels1
- In addition, mutant rats had lower serum MCP-1 and leptin levels, indicative of reduced inflammation. (bvsalud.org)
Animals1
- The sleep-wake profiles of each rat were recorded for 8 h under baseline (without injection), and after bilateral microinjections of 200 nl saline and 200 nl saline containing 20 or 40 ng of L-glutamic acid (GLUT) using a remote-controlled pump and without disturbing the animals. (flt-3inhibitors.com)
Treatment1
- Additionally, nuclei isolated from liver of rats after treatment with three daily intraperitoneal doses of ( 35 S)-captan contained appreciable amounts of radioactivity. (inchem.org)
Brain1
- Accumulation of N-acetyl-L-aspartate in the brain of the tremor rat, a mutant exhibiting absence-like seizure and spongiform degeneration in the central nervous system. (kyoto-u.ac.jp)
Studies2
- Binding studies with isolated rat liver nuclei indicated evolution as gas(es) of a large percentage of the total radioactivity from ( 35 S)-captan, suggesting occurrence of an interaction of captan with thiol groups in the nucleus with subsequent release of the SCCl 3 moiety. (inchem.org)
- This general principle is supported by studies with species from flies to rats, and seems well grounded in the literature. (xbrander.com)
Defining a new1
- A maximum two-point LOD score of 4.1 (θ = 0) was obtained with marker D1S214 , defining a new recessive deafness locus, DFNB36 . (bmj.com)