A5059553205- Animal Genetics and Reproduction
- CRISPR and Genetic Engineering
- Pancreatic function and diabetes
- Xenotransplantation and immune response
- Virus-based gene therapy research
- Viral Infectious Diseases and Gene Expression in Insects
- Ion Transport and Channel Regulation
- Animal testing and alternatives
- Biochemical Analysis and Sensing Techniques
- Adipose Tissue and Metabolism
- Metabolism, Diabetes, and Cancer
- Diabetes and associated disorders
- Metabolism and Genetic Disorders
- melanin and skin pigmentation
- Ion channel regulation and function
- Genetic Mapping and Diversity in Plants and Animals
- Pluripotent Stem Cells Research
- Regulation of Appetite and Obesity
- Birth, Development, and Health
- Sex and Gender in Healthcare
- Renal and related cancers
- Genetic Syndromes and Imprinting
- Diet and metabolism studies
- Cholesterol and Lipid Metabolism
- Metastasis and carcinoma case studies
Central European University
2024
Institute for Habsburg and Balkan Studies
2024
Ludwig-Maximilians-Universität München
2013-2023
Westfälische Hochschule
2020
LMU Klinikum
2007-2013
Technical University of Munich
2013
Gene Therapy Laboratory
2009
Helmholtz Zentrum München
2009
Institute of Bioinformatics and Systems Biology
2006-2007
Giessen School of Theology
2007
The novel diabetic mouse model Munich Ins2C95S was discovered within the N-ethyl-N-nitrosourea mutagenesis screen. These mice exhibit a T→A transversion in insulin 2 (Ins2) gene at nucleotide position 1903 exon 3, which leads to amino acid exchange C95S and loss of A6-A11 intrachain disulfide bond. From 1 month age onwards, blood glucose levels heterozygous mutant were significantly increased compared with controls. fasted postprandial serum mutants indistinguishable from those wild-type...
Currently, genome-wide evaluation of cattle populations is based on SNP-genotyping using ~ 54 000 SNP. Increasing the number markers might improve genomic predictions and power association studies. Imputation genotypes makes it possible to extrapolate from lower higher density arrays a representative reference sample for which are obtained at density. Genotypes 639 214 SNP were available 797 bulls Fleckvieh breed. The data set was divided into validation population. all except those included...
Abstract Background Genome- and population-wide re-sequencing would allow for most efficient detection of causal trait variants. However, despite a strong decrease costs next-generation sequencing in the last few years, large numbers individuals is not yet affordable. We therefore resorted to limited number bovine animals selected explain major proportion population's genomic variation, so called key animals, order provide catalogue functional variants substrate population- genome-wide...
Besides hematological analyses, many other parameters, including clinical chemistry and endocrinological values, can be determined from mouse blood samples. For most of these tests, plasma or serum samples are used. Data obtained by investigations provide indications genotype effects on metabolism organ functions. Here we describe in detail the considerations that have to taken into account get adequate for analyses recommended sample processing different investigations. Furthermore,...
Porcine primordial germ cell (PGC) derived lines of WAPhGH-transgenic pigs have been established that were able to contribute chimeras. PGCs isolated from day 25 28 genital ridges more than 30 individual transgenic fetuses in order an easy follow marker gene. To support undifferentiated growth, and stable maintained on STO no. 8 feeder cells, a murine embryonic fibroblast line expressing recombinant, membrane-bound porcine stem factor (SCF). Fifteen proliferated state up passage 13; two for...
Uromodulin-associated kidney disease is a heritable renal in humans caused by mutations the uromodulin (UMOD) gene. The pathogenesis of mostly unknown. In this study, we describe novel chemically induced mutant mouse line termed Umod(A227T) exhibiting impaired function. A227T amino acid exchange may impair trafficking, leading to dysfunction thick ascending limb cells Henle's loop kidney. As consequence, homozygous mice display azotemia, urine concentration ability, reduced fractional...
The bumetanide-sensitive Na(+)-K(+)-2Cl(-) cotransporter NKCC2, located in the thick ascending limb of Henle's loop, plays a critical role kidney's ability to concentrate urine. In humans, loss-of-function mutations solute carrier family 12 member 1 gene (SLC12A1), coding for cause type I Bartter syndrome, which is characterized by prenatal onset severe polyuria, salt-wasting tubulopathy, and hyperreninemia. this study, we describe novel chemically induced, recessive mutant mouse line termed...
Basic phenotyping of inbred mouse strains and genetically modified models usually includes the determination blood-based parameters as a diagnostic screen for genotype effects on metabolism organ function. A broad range analytes, including hematological parameters, can be reliably determined in blood, if appropriate samples are available. Here we describe recommended techniques blood collection from mice considerations that have to taken into account get adequate investigations. Furthermore,...
Uromodulin-associated kidney disease (UAKD) is a dominant heritable renal in humans which caused by mutations the uromodulin (UMOD) gene and characterized heterogeneous clinical appearance. To get insights into possible causes of this heterogeneity UAKD, we describe new mutant mouse line UmodC93F, leading to disruption putative disulfide bond also absent known human UMOD mutation, compare phenotype with recently published UmodA227T. In both lines, were bred on C3H background, Umod cause...
The generation of transgenic mice with mammalian genes cloned in yeast artificial chromosomes (YACs) has generated great interest the field gene transfer into livestock. Many problems associated standard transgenesis-such as lack crucial regulator elements and position effects related to integration site, which lead variation expression levels irrespective dose transgene-have been practically overcome. large size YAC-derived constructs (in excess 1 Mb) facilitates presence all required for...
Endogenous retroviral sequences in the pig genome (PERV) represent a potential infectious risk xenotransplantation. All known PERV have been asssigned to gamma1 family, consisting of subfamilies A, B, and C. The aim study was concise examination gamma by analysis pro-pol sequences. 52 clones amplified this revealed eight families. In addition four already-described families (gamma1, gamma4, gamma5, gamma6), novel (gamma7, gamma8, gamma9, gamma10) were identified. Quantitative selected breeds...
During nephrogenesis, POU domain class 3 transcription factor (POU3F3 aka BRN1) is critically involved in development of distinct nephron segments, including the thick ascending limb loop Henle (TAL). Deficiency POU3F3 knock-out mice leads to underdevelopment TAL, lack differentiation TAL cells, and perinatal death due renal failure. Pou3f3L423P mutant mice, which were established Munich ENU Mouse Mutagenesis Project, carry a recessive point mutation homeobox POU3F3. Homozygous mutants are...
Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models kidney diseases on the genetic background C3H inbred mice in phenotype-driven Munich ENU mutagenesis project. The phenotypically recessive mutant line HST011 was established and further analyzed. causative mutation detected POU domain, class 3 transcription factor (Pou3f3) gene, which leads to amino acid exchange Pou3f3L423P thereby affecting conserved homeobox domain protein. Pou3f3...