IMPC phenotypes (gene matching)
C3HeB/FeJ-CasrBCH013/Ieg
| Status | Available to order |
| EMMA ID | EM:05252 |
| Citation information | RRID:IMSR_EM:05252 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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
MGI phenotypes (allele matching)
- increased circulating calcium level / MGI
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- kyphoscoliosis / MGI
- increased circulating calcium level / MGI
- decreased circulating calcium level / MGI
- decreased circulating phosphate level / MGI
- decreased body weight / MGI
- decreased body size / MGI
- cataract / MGI
- dehydration / MGI
- aphagia / MGI
- abnormal posture / MGI
- increased circulating phosphate level / MGI
- postnatal growth retardation / MGI
- abnormal coat/hair pigmentation / MGI
- premature death / MGI
- increased hematocrit / MGI
- abnormal bone mineralization / MGI
- decreased urine phosphate level / MGI
- increased circulating parathyroid hormone level / MGI
- decreased circulating parathyroid hormone level / MGI
- abnormal postural reflex / MGI
- decreased urine calcium level / MGI
- enlarged parathyroid gland / MGI
- pigmented parathyroid gland / MGI
- rickets / MGI
- calcinosis / MGI
- nephrocalcinosis / MGI
- calcified muscle / MGI
- increased width of hypertrophic chondrocyte zone / MGI
- parathyroid gland hyperplasia / MGI
- lethargy / MGI
- renal/urinary system phenotype / MGI
- growth/size/body region phenotype / MGI
- endocrine/exocrine gland phenotype / MGI
- skeleton phenotype / MGI
- hematopoietic system phenotype / MGI
- increased circulating magnesium level / MGI
- postnatal lethality, complete penetrance / MGI
- abnormal parathyroid gland chief cell morphology / MGI
- tongue inflammation / MGI
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