C57BL/6-Slc34a1em1Cawa/Orl
| Status | Available to order |
| EMMA ID | EM:13238 |
| Citation information | RRID:IMSR_EM:13238 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 | C57BL/6-Slc34a1em1Cawa/Orl |
| Alternative name | C57Bl/6-Slc34a1 em2Cgen |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Slc34a1em1Cawa |
| Gene/Transgene symbol | Slc34a1 |
Information from provider
| Provider | Carsten A Wagner |
| Provider affiliation | Physiology, University Zurich |
| Additional owner | Dr. Carsten A Wagner Institute of Physiology University Zurich Winterthurerstrasse 190 8057-Zurich Switzerland |
| Genetic information | The Slc34a1 gene encoding the sodium/phosphate cotransporter NaPi-IIa was mutated by CRISPR/Cas-mediated genome engineering in order to truncate amino acids 91-97. |
| Phenotypic information | Homozygous:Homozygous Slc34a1-em2Cgen mice are indistinguishable from wild-type with regard to several parameters related to phosphate homeostasis, both under standard and low phosphate diet (Bieri et al.; PubMed ID: 35414099). Mutations of the SLC34A1 gene in humans are one of the causes of idiopathic infantile hypercalcemia (IIH; OMIM: 616963), and the 91del7 truncation has been suggested to be among the pathogenic mutations. Although mice with the 91del7 truncation do not phenocopy the human IIH alterations, they may help to clarify the role of this mutation in phosphate homeostasis.Heterozygous:Heterozygous Slc34a1-em2Cgen mice are indistinguishable from wild-type with regard to several parameters related to phosphate homeostasis, both under standard and low phosphate diet (Bieri et al.; PubMed ID: 35414099). |
| Breeding history | Heterozygous and homozygous mice breed without problems. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | homozygous C57BL/6 males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Primary Fanconi renotubular syndrome / Orphanet_3337
- Autosomal recessive infantile hypercalcemia / Orphanet_300547
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis / Orphanet_244305
- Hereditary hypophosphatemic rickets with hypercalciuria / Orphanet_157215
Literature references
- The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.;Bieri Cornelia, Daryadel Arezoo, Bettoni Carla, Pastor-Arroyo Eva-Maria, Schnitzbauer Udo, Hernando Nati, Wagner Carsten A, ;2022;Scientific reports;12;6102; 35414099