This disorder was found to be caused by an autosomal recessive gene and was designated tremor ( tm ). (kyoto-u.ac.jp)
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)
Results from a genome-wide association study, fine-scale mapping, and RNA-Seq identified this gene as a compelling candidate for contributing to the 206-fold resistance to Vip3Aa in a laboratory-selected strain. (bvsalud.org)
Experimental reduction of SfMyb expression in a susceptible strain using RNA interference (RNAi) or CRISPR/Cas9 gene editing decreased susceptibility to Vip3Aa, confirming that reduced expression of this gene can cause resistance to Vip3Aa. (bvsalud.org)
The autosomal recessive nude gene in homozygous (sp/sp) mice causes the lack of fur and an abnormal thymus. (taconic.com)
Enhancing HH signaling by decreasing the gene dosage of a negative regulator of the pathway, Ptch1 , decreased cell death and rescued the midface defect in both Tctn2 and Cc2d2a mutants. (elifesciences.org)
This success story is mainly founded on countless so-called forward genetic screens designed to elucidate gene functions on the basis of their mutant phenotypes. (biomedcentral.com)
Mutations within the gene are induced and identified by various techniques and only subsequently is the mutant phenotype analyzed [ 1 ]. (biomedcentral.com)
Niemann-Pick disease type C (NPC) is a neurodegenerative disease inherited in an autosomal recessive pattern [ 1 ], with mutations in the NPC1 gene accounting for approximately 95% of all reported cases and the remaining 5% of the cases resulting from mutations in the NPC2 gene. (biomedcentral.com)
Deafness and vestibular1
Spontaneous mutants lacking both isoforms show short stereocilia, severe deafness and vestibular deficits. (jax.org)
Mutations2
We have also developed transgenic rats, expressing dominant rhodopsin mutations. (berkeley.edu)
NPC is inherited in an autosomal recessive pattern from mutations in NPC1 or NPC2 genes. (biomedcentral.com)
Mice2
Mutant mice develop skin lesions at the age of 5 to 6 weeks. (tno.nl)
A low virulence strain of herpes simplex type 1 was microinjected into the hippocampus of BALB/c mice. (shengsci.com)
Spontaneous3
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)
The NIH Animal Genetic Resource received the B6 Nude Spontaneous mutant model in 1980. (taconic.com)
Mutation2
In F18 progeny, a rat which did not have tm mutation was separated and established as a control strain of WTC (NBRP No.0020). (kyoto-u.ac.jp)
A recessive mutation of ESPN is known to cause hearing loss and vestibular dysfunction in the jerker mouse. (bmj.com)
Phenotype1
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. (kyoto-u.ac.jp)
Disorder2
Most congenital non-syndromic hearing loss is inherited as a recessive Mendelian disorder. (bmj.com)
The autosomal recessive disorder Ataxia-Telangiectasia is caused by dysfunction of the stress response protein ATM. (preprints.org)
Genes1
1 Forty recessive deafness loci (DFNB) have been mapped and the genes responsible at 20 of these loci have been reported. (bmj.com)
Retinal degeneration2
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)
MRNA1
Another promising strategy for dominantly inherited retinal diseases involves directly targeting the mutant mRNA product using Talens, CRISPR , and siRNA constructs. (berkeley.edu)
Defects3
We investigated the molecular underpinnings of forebrain and midface defects in ciliopathies utilizing multiple mouse mutants affecting the transition zone. (elifesciences.org)
The mutants exhibited forebrain and midface defects by E9.5, which persisted throughout development. (elifesciences.org)
In these mutants, the prechordal plate, an organizer of anterior head development, displayed defects in HH pathway activation at E8.0. (elifesciences.org)
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)
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)
Dominant2
In parallel, we are designing viral mediated therapies for autosomal dominant and recessive retinal degnenerations. (berkeley.edu)
The proteomic profile of CAA type 1 was characterized by massive enrichment of multiple predominantly secreted proteins and showed significant overlap with the recently reported brain microvascular proteome of patients with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease (SVD) characterized by the aggregation of the Notch3 extracellular domain. (biomedcentral.com)
Homology1
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)
Protein2
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)
Naturally1
not possessing the tolerance to heat and other attributes necessary to survive and thrive in indian conditions, any hybrid strain is naturally less able to cope and function. (bihartimes.in)
Molecular1
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)
Reduction1
Concomitant with the reduction of HH pathway activity, Tctn2 mutants exhibited increased cell death in the neurectoderm and facial ectoderm, culminating in a collapse of the facial midline. (elifesciences.org)
Models1
We investigated multiple mouse models of human ciliopathies (including Tctn2, Cc2d2a, and Tmem231 mutants) and discovered that each displays hypotelorism, a narrowing of the midface. (elifesciences.org)
Results1
Breeding results suggest an autosomal recessive mode of inheritance. (tno.nl)
Data1
Gray triangles = other expression annotations only (e.g. absence of expression or data from mutants). (jax.org)
Early1
As early in development as the end of gastrulation, Tctn2 mutants displayed reduced activation of the Hedgehog (HH) pathway in the prechordal plate, the head organizer. (elifesciences.org)
Activity2
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)
Relative to the wild-type promoter for SfMyb, the promoter in the resistant strain has deletions and lower activity. (bvsalud.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)
Wild-type1
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)