MGI phenotypes (allele matching)
- increased circulating calcium level / MGI
C3HeB/FeJ-CasrBCH013/Ieg
| Status | Available to order |
| EMMA ID | EM:05252 |
| International strain name | C3HeB/FeJ-CasrBCH013/Ieg |
| Alternative name | BCH013 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | CasrBCH013, |
| Gene/Transgene symbol | Casr |
Information from provider
| Provider | Sibylle Wagner |
| Provider affiliation | Institute of Experimental Genetics, GSF Research Centre |
| Genetic information | Missense mutation at exon 3, c.296 A to G, p.Asp 98 to Gly. |
| Phenotypic information | High total calcium and reduced inorganic phosphate values in plasma. |
| Breeding history | C3HeB/FeJ inbred for more than 5 generations. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Neonatal severe primary hyperparathyroidism / Orphanet_417
- Familial hypocalciuric hypercalcemia type 1 / Orphanet_93372
- Autosomal dominant hypocalcemia / Orphanet_428
Literature references
- 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, Hrabě de Angelis Martin, ;2012;Mammalian genome : official journal of the International Mammalian Genome Society;23;416-30; 22527485