IMPC phenotypes (gene matching)
C3HeB/FeJ-CasrBCH002/Ieg
| Status | Available to order |
| EMMA ID | EM:02556 |
| International strain name | C3HeB/FeJ-CasrBCH002/Ieg |
| Alternative name | BCH002 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | CasrBCH002 |
| Gene/Transgene symbol | Casr |
Information from provider
| Provider | Martin Hrabe de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | Mutation in exon 7 of Casr gene, c. 2579 T ->A, p. 859 Ile ->Asn. |
| Phenotypic information | High calcium. |
| Breeding history | More than 2 times backcrossed to C3HeB/FeJ. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C3H |
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 (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
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
- Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
- 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
- A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects.;Küng Catharina J, Daryadel Arezoo, Fuente Rocio, Haykir Betül, de Angelis Martin Hrabĕ, Hernando Nati, Rubio-Aliaga Isabel, Wagner Carsten A, ;2024;Pflugers Archiv : European journal of physiology;476;833-845; 38386045
- The calcium-sensing receptor has only a parathyroid hormone-dependent role in the acute response of renal phosphate transporters to phosphate intake.;Daryadel Arezoo, Küng Catharina J, Haykir Betül, Sabrautzki Sibylle, de Angelis Martin Hrabĕ, Hernando Nati, Rubio-Aliaga Isabel, Wagner Carsten A, ;2024;American journal of physiology. Renal physiology;326;F792-F801; 38545651