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 (allele matching)
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
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