A5072379144- Retinal Development and Disorders
- RNA regulation and disease
- Axon Guidance and Neuronal Signaling
- Genomics and Chromatin Dynamics
- Platelet Disorders and Treatments
- Neurological diseases and metabolism
- Skin and Cellular Biology Research
- Cell Adhesion Molecules Research
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Zebrafish Biomedical Research Applications
- Hearing, Cochlea, Tinnitus, Genetics
- interferon and immune responses
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Urological Disorders and Treatments
- melanin and skin pigmentation
- Cancer-related gene regulation
- Ion channel regulation and function
- Metalloenzymes and iron-sulfur proteins
- Developmental Biology and Gene Regulation
- Congenital heart defects research
- Blood properties and coagulation
- Receptor Mechanisms and Signaling
- Neuroscience and Neuropharmacology Research
Jackson Laboratory
2013-2024
The classical recessive mouse mutant, Purkinje cell degeneration ( pcd ), exhibits adult-onset of cerebellar neurons, retinal photoreceptors, olfactory bulb mitral and selected thalamic has defective spermatogenesis. Here we identify Nna1 as the gene mutated in original two additional alleles 2J 3J ). encodes a putative nuclear protein containing zinc carboxypeptidase domain initially identified by its induction spinal motor neurons during axonal regeneration. present study suggests an...
Migrating axons require the correct presentation of guidance molecules, often at multiple choice points, to find their target. Netrin 1, a bifunctional cue involved in both attracting and repelling axons, is many cell migration axon pathfinding processes CNS. The netrin 1 receptor DCC its Caenorhabditis elegans homolog UNC-40 have been implicated directing toward sources, whereas C. UNC-6 receptor, UNC-5 necessary for migrations away from UNC-6. However, role vertebrate homologs axonal has...
Transcription factors play vital roles in neuron development; however, little is known about the role of these proteins maintaining neuronal homeostasis. Here, we show that transcription factor RREB1 (Ras-responsive element-binding protein 1) essential for survival mammalian brain. A spontaneous mouse mutation causing loss a nervous system–enriched Rreb1 transcript associated with progressive cerebellar Purkinje cells and ataxia. Analysis chromatin immunoprecipitation sequencing, along RNA...
Spontaneously arising mouse mutations have served as the foundation for understanding gene function more than 100 years. We used exome sequencing in an effort to identify causative 172 distinct, spontaneously models of Mendelian disorders, including a broad range clinically relevant phenotypes. To analyze resulting data, we developed analytics pipeline that is optimized data and variation database allows reproducible, user-defined mining well nomination mutation candidates through...
Abstract Background The H6 homeobox genes Hmx1 , Hmx2 and Hmx3 (also known as Nkx5-3 ; Nkx5-2 Nkx5-1 respectively), compose a family within the NKL subclass of ANTP class genes. Hmx gene expression is mostly limited to sensory organs, branchial (pharyngeal) arches, rostral part central nervous system. Targeted mutation either or in mice disrupts vestibular These tandemly duplicated have functional overlap indicated by loss entire system double mutants. Mutants not been described for most...
Iron-sulfur (Fe-S) clusters are ubiquitous cofactors essential to various cellular processes, including mitochondrial respiration, DNA repair, and iron homeostasis. A steadily increasing number of disorders being associated with disrupted biogenesis Fe-S clusters. Here, we conducted whole-exome sequencing patients optic atrophy other neurological signs mitochondriopathy identified 17 individuals from 13 unrelated families recessive mutations in FDXR, encoding the membrane-associated...
Abstract DSCAMs are cell adhesion molecules that play several important roles in neurodevelopment. Mouse alleles of Dscam identified to date do not survive on an inbred C57BL/6 background, complicating analysis DSCAM‐dependent developmental processes because phenotypic variability related the segregating backgrounds needed for postnatal survival. A novel spontaneous allele , hereafter referred as 2J has been identified. This contains a four base pair duplication exon 19, leading frameshift...
The evolutionarily conserved Notch signalling pathway regulates multiple developmental processes in a wide variety of organisms. One critical posttranslational modification for its function vivo is the addition O-linked fucose residues by protein O-fucosyltransferase 1 (POFUT1). In addition, POFUT1 acts as chaperone and required trafficking. Mouse embryos lacking die with phenotype indicative global inactivation signalling. on can serve substrates further sugar Fringe (FNG) proteins....
Abstract The mitochondrial flavoprotein ferredoxin reductase (FDXR) is required for biogenesis of iron–sulfur clusters and steroidogenesis. Iron–sulfur (Fe–S) are ubiquitous cofactors essential to various cellular processes, an increasing number disorders associated with disruptions in the synthesis Fe–S clusters. Our previous studies have demonstrated that hypomorphic mutations FDXR cause a novel mitochondriopathy optic atrophy humans mice, attributed part reduced function electron...
The differential adhesion hypothesis of development states that patterning organisms, organs and tissues is mediated in large part by expression cell molecules. cues provided molecules are also hypothesized to facilitate specific connectivity within the nervous system. In this study we characterize a novel mouse mutation gene Dscam (Down Syndrome Cell Adhesion Molecule). Vertebrate DSCAM required for normal central system has been best characterized visual regulation number, mosaic...
Otitis media (OM), inflammation of the middle ear, is a common cause hearing loss in children and patients with many different syndromic diseases. Studies human population mouse models have revealed that OM multifactorial disease environmental genetic contributing factors. Here, we report on otitis media-related asj (ages stiffened joints) mutant mice, which bear point mutation Enpp1 gene. Auditory-evoked brainstem response (ABR) measurements around 90% mice (Enpp1asj/asj) tested had...
Forebrain overgrowth, fog, is a spontaneous autosomal recessive mutation in the mouse producing forebrain, lumbo-sacral, and facial defects. The defects appear to result from excessive growth or cellular proliferation leading abnormalities neural tube closure. Three unique features of mutant are: (1) telencephalon cells into surrounding mesenchyme, (2) presence an encephalocele through midline cleft some mutants, (3) dissociation tail defect caudal defect. We used intersubspecific intercross...
BACKGROUND: Chromosomal abnormalities frequently are associated with impairment or arrest of spermatogenesis in mammals but compatible fertility female carriers the same anomaly. In case trisomy, mice have extra genomic DNA as well chromosomal abnormality, usually present an extra, unpaired chromosome. Thus, trisomic males could be due to presence material (i.e. triplicated genes) abnormality and chromosome meiosis. METHODS: this study, pairing configurations during meiotic prophase were...