MGI phenotypes (gene matching)
C57BL/6N-Rps19em1Rase/Ph
| Status | Available to order |
| EMMA ID | EM:10062 |
| Citation information | RRID:IMSR_EM:10062 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/6N-Rps19em1Rase/Ph |
| Alternative name | B6.RPS19del3 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Rps19em1Rase |
| Gene/Transgene symbol | Rps19 |
Information from provider
| Provider | Radislav Sedlacek |
| Provider affiliation | Dept. of Transgenic Models of Diseases, Institute of Molecular Genetics ASCR |
| Genetic information | TALENs targeting exon4 of Rps19 gene were used to generate an Indel mutation. A deletion of four nucleotides combined with insertion of one nucleotide (c.495_498delCCGAinsG) was identified in the founder resulting in deletion of one arginine residue (p.67delR) at the flanking site of the amphipathic alpha-helix 3 of murine Rps19. TALEN mRps19 exon4 L contained 17 RVDs with the following sequence: NG HD HD NI HD NI NN HD NI HD NN NN HD NI HD HD NG and was paired with TALEN mRps19 exon4 R containing 18 RVDs with the following sequence: HD NI NG NN NN NI NI HD HD NI NI HD HD HD HD NI NN HD |
| Phenotypic information | Homozygous:Homozygous mice show growth retardation and white belly spotting. In addition, anemia, developmental craniofacial, CNS and skeletal anomalies caused by mutation of murine Rps19 gene. The mice have shortened life span very likely as a consequence of alterations of diaphragm, heart and blood.Heterozygous:No gross visible phenotype in heterozygous mice. |
| Breeding history | Founder animal was crossed to C57BL/6N wild-type breeding partner. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Institute of Molecular Genetics, Prague, Czech Republic |
| Animals used for archiving | heterozygous C57BL/6N males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Blackfan-Diamond anemia / Orphanet_124