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Sabrautzki, S. ; Rubio-Aliaga, I. ; Hans, W. ; Fuchs, H. ; Rathkolb, B.* ; Calzada-Wack, J. ; Cohrs, C.M. ; Klaften, M. ; Seedorf, H.* ; Eck, S.H. ; Benet-Pagès, A. ; Favor, J. ; Esposito, I. ; Strom, T.M. ; Wolf, E.* ; Lorenz-Depiereux, B. ; Hrabě de Angelis, M.

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

Mamm. Genome 23, 416-430 (2012)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
Erratum to: Mamm Genome (2012) 23:416–430 DOI 10.1007/s00335-012-9397-z In Table 3 of the original publication, the ‘Additional phenotype, comment’ for the ‘Line name’ BCH004 should read as follows: Nonsense mutation in exon 4 of the Casr (calcium-sensing receptor) gene, c.1366G > T, p.Glu456X.  
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Publication type Article: Journal article
Document type Scientific Article
Keywords X-Linked Hypophosphatemia; Familial Hypocalciuric Hypercalcemia; Neonatal Severe Hyperparathyroidism; Nonspecific Alkaline-Phosphatase; Calcium-Sensing Receptor; Primordial Germ-Cells; D-Resistant Rickets; Osteogenesis-Imperfecta; Pagets-Disease; Ca2+-Sensing Receptor
Language english
Publication Year 2012
HGF-reported in Year 2012
ISSN (print) / ISBN 0938-8990
e-ISSN 1432-1777
Journal Mammalian Genome
Quellenangaben Volume: 23, Issue: 7-8, Pages: 416-430 Article Number: , Supplement: ,
Publisher Springer
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Pathology (PATH)
Institute of Human Genetics (IHG)
POF-Topic(s) 30201 - Metabolic Health
30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
Enabling and Novel Technologies
PSP Element(s) G-500600-003
G-500600-001
G-500300-001
G-500700-001
G-500700-002
PubMed ID 22527485
PubMed ID 25100545
DOI 10.1007/s00335-012-9397-z
DOI 10.1007/s00335-014-9534-y
WOS ID WOS:000345422500008
WOS ID WOS:000306694700003
Scopus ID 84865107729
Scopus ID 84912010249
Scopus ID 84905287412
Erfassungsdatum 2012-08-20
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