Mus musculus
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ABSTRACT:
PROVIDER: PRJNA116567 | ENA |
REPOSITORIES: ENA
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Project description:A new mouse mutant arose spontaneously at the 5th inbred generation in a congenic C3H/He line. Since the mice suffered from anophthalmia or microphthalmia, we referred to this new mutant as eyeless (provisional gene symbol: eyl). The mutation follows an autosomal recessive pattern of inheritance and was mapped to chromosome 19 close to Pitx3; complementation tests confirmed that eyl is an allelic variant of aphakia (gene symbol: ak). Sequence analysis of the Pitx3 gene identified an insertion of a G in exon 4 (after cDNA position 416: 416insG). The altered open reading frame is predicted to result in a hybrid protein still containing the Pitx3 homeobox, but 121 new amino acids instead of the OAR domain at its C-terminal part. The new Pitx3eyl allele shares the ophthalmological and brain defects of the aphakia mouse including the loss of dopamine transporter 1 transcripts in the midbrain. Moreover, we observed in the mutants an increased extramedullary hematopoiesis in the spleen, and frequently also hepatosteatosis, combined with a reduced body weight. Fat mass, fat content and subcutaneous fat are significantly decreased in females, but not in males. Additionally, we observed a broad spectrum of behavioural changes in the homozygous mutants including reduced forelimb grip strength and increased nociception. In addition to these alterations being apparent in both sexes, we observed in female Pitx3eyl-/- mice increased anxiety, reduced locomotor activity, reduced object exploration and increased social contacts, but decreased anxiety and increased arousal in males. Most of these defects identified in the new Pitx3 mutation can also be observed in Parkinson patients. Therefore, the Pitx3eyl mutant is a valuable new model, because it is the first mutant mouse line carrying a point mutation within the coding region of the Pitx3 gene. 5 male animals, 5 experiments including 2 dye swap hybridisations
2010-05-19 | E-GEOD-15336 | biostudies-arrayexpress
Project description:SILAC based protein correlation profiling using size exclusion of protein complexes derived from Mus musculus tissues (Heart, Liver, Lung, Kidney, Skeletal Muscle, Thymus)
2021-05-05 | PXD022309 | Pride
Project description:SILAC based protein correlation profiling using size exclusion of protein complexes derived from seven Mus musculus tissues (Heart, Brain, Liver, Lung, Kidney, Skeletal Muscle, Thymus)
2018-04-24 | PXD007288 | Pride
Project description:A new mouse mutant arose spontaneously at the 5th inbred generation in a congenic C3H/He line. Since the mice suffered from anophthalmia or microphthalmia, we referred to this new mutant as eyeless (provisional gene symbol: eyl). The mutation follows an autosomal recessive pattern of inheritance and was mapped to chromosome 19 close to Pitx3; complementation tests confirmed that eyl is an allelic variant of aphakia (gene symbol: ak). Sequence analysis of the Pitx3 gene identified an insertion of a G in exon 4 (after cDNA position 416: 416insG). The altered open reading frame is predicted to result in a hybrid protein still containing the Pitx3 homeobox, but 121 new amino acids instead of the OAR domain at its C-terminal part. The new Pitx3eyl allele shares the ophthalmological and brain defects of the aphakia mouse including the loss of dopamine transporter 1 transcripts in the midbrain. Moreover, we observed in the mutants an increased extramedullary hematopoiesis in the spleen, and frequently also hepatosteatosis, combined with a reduced body weight. Fat mass, fat content and subcutaneous fat are significantly decreased in females, but not in males. Additionally, we observed a broad spectrum of behavioural changes in the homozygous mutants including reduced forelimb grip strength and increased nociception. In addition to these alterations being apparent in both sexes, we observed in female Pitx3eyl-/- mice increased anxiety, reduced locomotor activity, reduced object exploration and increased social contacts, but decreased anxiety and increased arousal in males. Most of these defects identified in the new Pitx3 mutation can also be observed in Parkinson patients. Therefore, the Pitx3eyl mutant is a valuable new model, because it is the first mutant mouse line carrying a point mutation within the coding region of the Pitx3 gene.
2009-12-01 | GSE15336 | GEO
Project description:Introgressed variants from other species can be an important source of genetic variation because they may arise rapidly, can include multiple mutations on a single haplotype, and have often been pretested by selection in the species of origin. Although introgressed alleles are generally deleterious, several studies have reported introgression as the source of adaptive alleles-including the rodenticide-resistant variant of Vkorc1 that introgressed from Mus spretus into European populations of Mus musculus domesticus. Here, we conducted bidirectional genome scans to characterize introgressed regions into one wild population of M. spretus from Spain and three wild populations of M. m. domesticus from France, Germany, and Iran. Despite the fact that these species show considerable intrinsic postzygotic reproductive isolation, introgression was observed in all individuals, including in the M. musculus reference genome (GRCm38). Mus spretus individuals had a greater proportion of introgression compared with M. m. domesticus, and within M. m. domesticus, the proportion of introgression decreased with geographic distance from the area of sympatry. Introgression was observed on all autosomes for both species, but not on the X-chromosome in M. m. domesticus, consistent with known X-linked hybrid sterility and inviability genes that have been mapped to the M. spretus X-chromosome. Tract lengths were generally short with a few outliers of up to 2.7 Mb. Interestingly, the longest introgressed tracts were in olfactory receptor regions, and introgressed tracts were significantly enriched for olfactory receptor genes in both species, suggesting that introgression may be a source of functional novelty even between species with high barriers to gene flow.
| S-EPMC8784167 | biostudies-literature
Project description:SILAC based protein correlation profiling using size exclusion of protein complexes derived from Mus musculus tissues (Heart, Liver, Lung, Kidney, Skeletal Muscle, Thymus)
2024-11-07 | MSV000096332 | MassIVE
Project description:Sex differences in liver gene expression are dictated by sex-differences in circulating growth hormone (GH) profiles. Presently, the pituitary hormone dependence of mouse liver gene expression was investigated on a global scale to discover sex-specific early GH response genes that might contribute to sex-specific regulation of downstream GH targets and to ascertain whether intrinsic sex-differences characterize hepatic responses to plasma GH stimulation. RNA expression analysis using 41,000-feature microarrays revealed two distinct classes of sex-specific mouse liver genes: genes subject to positive regulation (class-I) and genes subject to negative regulation by pituitary hormones (class-II). Genes activated or repressed in hypophysectomized (Hypox) mouse liver within 30-90min of GH pulse treatment at a physiological dose were identified as direct targets of GH action (early response genes). Intrinsic sex-differences in the GH responsiveness of a subset of these early response genes were observed. Notably, 45 male-specific genes, including five encoding transcriptional regulators that may mediate downstream sex-specific transcriptional responses, were rapidly induced by GH (within 30min) in Hypox male but not Hypox female mouse liver. The early GH response genes were enriched in 29 male-specific targets of the transcription factor Mef2, whose activation in hepatic stellate cells is associated with liver fibrosis leading to hepatocellular carcinoma, a male-predominant disease. Thus, the rapid activation by GH pulses of certain sex-specific genes is modulated by intrinsic sex-specific factors, which may be associated with prior hormone exposure (epigenetic mechanisms) or genetic factors that are pituitary-independent, and could contribute to sex-differences in predisposition to liver cancer or other hepatic pathophysiologies.
2010-01-27 | GSE17644 | GEO
Project description:SILAC based protein correlation profiling using size exclusion of protein complexes derived from seven Mus musculus tissues (Heart, Brain, Liver, Lung, Kidney, Skeletal Muscle, Thymus)
2024-11-07 | MSV000096331 | MassIVE
Project description:PURPOSE: To provide a detailed gene expression profile of the normal postnatal mouse cornea. METHODS: Serial analysis of gene expression (SAGE) was performed on postnatal day (PN)9 and adult mouse (6 week) total corneas. The expression of selected genes was analyzed by in situ hybridization. RESULTS: A total of 64,272 PN9 and 62,206 adult tags were sequenced. Mouse corneal transcriptomes are composed of at least 19,544 and 18,509 unique mRNAs, respectively. One third of the unique tags were expressed at both stages, whereas a third was identified exclusively in PN9 or adult corneas. Three hundred thirty-four PN9 and 339 adult tags were enriched more than fivefold over other published nonocular libraries. Abundant transcripts were associated with metabolic functions, redox activities, and barrier integrity. Three members of the Ly-6/uPAR family whose functions are unknown in the cornea constitute more than 1% of the total mRNA. Aquaporin 5, epithelial membrane protein and glutathione-S-transferase (GST) omega-1, and GST alpha-4 mRNAs were preferentially expressed in distinct corneal epithelial layers, providing new markers for stratification. More than 200 tags were differentially expressed, of which 25 mediate transcription. CONCLUSIONS: In addition to providing a detailed profile of expressed genes in the PN9 and mature mouse cornea, the present SAGE data demonstrate dynamic changes in gene expression after eye opening and provide new probes for exploring corneal epithelial cell stratification, development, and function and for exploring the intricate relationship between programmed and environmentally induced gene expression in the cornea. Keywords: other
2004-01-02 | GSE887 | GEO