New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

Sibylle Sabrautzki; Isabel Rubio-Aliaga; Wolfgang Hans; Helmut Fuchs; Birgit Rathkolb; Julia Calzada-Wack; Christian M Cohrs; Matthias Klaften; Hartwig Seedorf; Sebastian Eck; Ana Benet-Pagès; Jack Favor; Irene Esposito; Tim M Strom; Eckhard Wolf; Bettina Lorenz-Depiereux; Hrabě de Angelis Martin

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

Standard

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. / Sabrautzki, Sibylle; Rubio-Aliaga, Isabel; Hans, Wolfgang; Fuchs, Helmut; Rathkolb, Birgit; Calzada-Wack, Julia; Cohrs, Christian M; Klaften, Matthias; Seedorf, Hartwig; Eck, Sebastian; Benet-Pagès, Ana; Favor, Jack; Esposito, Irene; Strom, Tim M; Wolf, Eckhard; Lorenz-Depiereux, Bettina; Martin, Hrabě de Angelis.

in: MAMM GENOME, Jahrgang 23, Nr. 7-8, 7-8, 2012, S. 416-430.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Sabrautzki, S, Rubio-Aliaga, I, Hans, W, Fuchs, H, Rathkolb, B, Calzada-Wack, J, Cohrs, CM, Klaften, M, Seedorf, H, Eck, S, Benet-Pagès, A, Favor, J, Esposito, I, Strom, TM, Wolf, E, Lorenz-Depiereux, B & Martin, HDA 2012, 'New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.', MAMM GENOME, Jg. 23, Nr. 7-8, 7-8, S. 416-430. <http://www.ncbi.nlm.nih.gov/pubmed/22527485?dopt=Citation>

APA

Sabrautzki, S., Rubio-Aliaga, I., Hans, W., Fuchs, H., Rathkolb, B., Calzada-Wack, J., Cohrs, C. M., Klaften, M., Seedorf, H., Eck, S., Benet-Pagès, A., Favor, J., Esposito, I., Strom, T. M., Wolf, E., Lorenz-Depiereux, B., & Martin, H. D. A. (2012). New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. MAMM GENOME, 23(7-8), 416-430. [7-8]. http://www.ncbi.nlm.nih.gov/pubmed/22527485?dopt=Citation

Vancouver

Sabrautzki S, Rubio-Aliaga I, Hans W, Fuchs H, Rathkolb B, Calzada-Wack J et al. New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. MAMM GENOME. 2012;23(7-8):416-430. 7-8.

Bibtex

@article{0bc77e127f784ea8b2c0bec5e629aa49,

title = "New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.",

abstract = "Metabolic bone disorders arise as primary diseases or may be secondary due to a multitude of organ malfunctions. Animal models are required to understand the molecular mechanisms responsible for the imbalances of bone metabolism in disturbed bone mineralization diseases. Here we present the isolation of mutant mouse models for metabolic bone diseases by phenotyping blood parameters that target bone turnover within the large-scale genome-wide Munich ENU Mutagenesis Project. A screening panel of three clinical parameters, also commonly used as biochemical markers in patients with metabolic bone diseases, was chosen. Total alkaline phosphatase activity and total calcium and inorganic phosphate levels in plasma samples of F1 offspring produced from ENU-mutagenized C3HeB/FeJ male mice were measured. Screening of 9,540 mice led to the identification of 257 phenodeviants of which 190 were tested by genetic confirmation crosses. Seventy-one new dominant mutant lines showing alterations of at least one of the biochemical parameters of interest were confirmed. Fifteen mutations among three genes (Phex, Casr, and Alpl) have been identified by positional-candidate gene approaches and one mutation of the Asgr1 gene, which was identified by next-generation sequencing. All new mutant mouse lines are offered as a resource for the scientific community.",

keywords = "Animals, Male, Female, Mice, Inbred C57BL, DNA Mutational Analysis, Mutation, Phenotype, Amino Acid Sequence, Base Sequence, Mutagenesis, Polymorphism, Single Nucleotide, Statistics, Nonparametric, *Disease Models, Animal, Mice, Inbred C3H, Alkaline Phosphatase/genetics, Bone Diseases, Metabolic/blood/enzymology/*genetics, Calcium/blood, Chromosomes, Mammalian, Ethylnitrosourea/pharmacology, Mice/*genetics, Mutagens/pharmacology, PHEX Phosphate Regulating Neutral Endopeptidase/genetics, Phosphates/blood, Receptors, Calcium-Sensing/genetics, X Chromosome, Animals, Male, Female, Mice, Inbred C57BL, DNA Mutational Analysis, Mutation, Phenotype, Amino Acid Sequence, Base Sequence, Mutagenesis, Polymorphism, Single Nucleotide, Statistics, Nonparametric, *Disease Models, Animal, Mice, Inbred C3H, Alkaline Phosphatase/genetics, Bone Diseases, Metabolic/blood/enzymology/*genetics, Calcium/blood, Chromosomes, Mammalian, Ethylnitrosourea/pharmacology, Mice/*genetics, Mutagens/pharmacology, PHEX Phosphate Regulating Neutral Endopeptidase/genetics, Phosphates/blood, Receptors, Calcium-Sensing/genetics, X Chromosome",

author = "Sibylle Sabrautzki and Isabel Rubio-Aliaga and Wolfgang Hans and Helmut Fuchs and Birgit Rathkolb and Julia Calzada-Wack and Cohrs, {Christian M} and Matthias Klaften and Hartwig Seedorf and Sebastian Eck and Ana Benet-Pag{\`e}s and Jack Favor and Irene Esposito and Strom, {Tim M} and Eckhard Wolf and Bettina Lorenz-Depiereux and Martin, {Hrab{\v e} de Angelis}",

year = "2012",

language = "English",

volume = "23",

pages = "416--430",

journal = "MAMM GENOME",

issn = "0938-8990",

publisher = "Springer New York",

number = "7-8",

}

RIS

TY - JOUR

T1 - New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

AU - Sabrautzki, Sibylle

AU - Rubio-Aliaga, Isabel

AU - Hans, Wolfgang

AU - Fuchs, Helmut

AU - Rathkolb, Birgit

AU - Calzada-Wack, Julia

AU - Cohrs, Christian M

AU - Klaften, Matthias

AU - Seedorf, Hartwig

AU - Eck, Sebastian

AU - Benet-Pagès, Ana

AU - Favor, Jack

AU - Esposito, Irene

AU - Strom, Tim M

AU - Wolf, Eckhard

AU - Lorenz-Depiereux, Bettina

AU - Martin, Hrabě de Angelis

PY - 2012

Y1 - 2012

N2 - Metabolic bone disorders arise as primary diseases or may be secondary due to a multitude of organ malfunctions. Animal models are required to understand the molecular mechanisms responsible for the imbalances of bone metabolism in disturbed bone mineralization diseases. Here we present the isolation of mutant mouse models for metabolic bone diseases by phenotyping blood parameters that target bone turnover within the large-scale genome-wide Munich ENU Mutagenesis Project. A screening panel of three clinical parameters, also commonly used as biochemical markers in patients with metabolic bone diseases, was chosen. Total alkaline phosphatase activity and total calcium and inorganic phosphate levels in plasma samples of F1 offspring produced from ENU-mutagenized C3HeB/FeJ male mice were measured. Screening of 9,540 mice led to the identification of 257 phenodeviants of which 190 were tested by genetic confirmation crosses. Seventy-one new dominant mutant lines showing alterations of at least one of the biochemical parameters of interest were confirmed. Fifteen mutations among three genes (Phex, Casr, and Alpl) have been identified by positional-candidate gene approaches and one mutation of the Asgr1 gene, which was identified by next-generation sequencing. All new mutant mouse lines are offered as a resource for the scientific community.

AB - Metabolic bone disorders arise as primary diseases or may be secondary due to a multitude of organ malfunctions. Animal models are required to understand the molecular mechanisms responsible for the imbalances of bone metabolism in disturbed bone mineralization diseases. Here we present the isolation of mutant mouse models for metabolic bone diseases by phenotyping blood parameters that target bone turnover within the large-scale genome-wide Munich ENU Mutagenesis Project. A screening panel of three clinical parameters, also commonly used as biochemical markers in patients with metabolic bone diseases, was chosen. Total alkaline phosphatase activity and total calcium and inorganic phosphate levels in plasma samples of F1 offspring produced from ENU-mutagenized C3HeB/FeJ male mice were measured. Screening of 9,540 mice led to the identification of 257 phenodeviants of which 190 were tested by genetic confirmation crosses. Seventy-one new dominant mutant lines showing alterations of at least one of the biochemical parameters of interest were confirmed. Fifteen mutations among three genes (Phex, Casr, and Alpl) have been identified by positional-candidate gene approaches and one mutation of the Asgr1 gene, which was identified by next-generation sequencing. All new mutant mouse lines are offered as a resource for the scientific community.

KW - Animals

KW - Male

KW - Female

KW - Mice, Inbred C57BL

KW - DNA Mutational Analysis

KW - Mutation

KW - Phenotype

KW - Amino Acid Sequence

KW - Base Sequence

KW - Mutagenesis

KW - Polymorphism, Single Nucleotide

KW - Statistics, Nonparametric

KW - Disease Models, Animal

KW - Mice, Inbred C3H

KW - Alkaline Phosphatase/genetics

KW - Bone Diseases, Metabolic/blood/enzymology/genetics

KW - Calcium/blood

KW - Chromosomes, Mammalian

KW - Ethylnitrosourea/pharmacology

KW - Mice/genetics

KW - Mutagens/pharmacology

KW - PHEX Phosphate Regulating Neutral Endopeptidase/genetics

KW - Phosphates/blood

KW - Receptors, Calcium-Sensing/genetics

KW - X Chromosome