| Status | Available to order |
| EMMA ID | EM:15253 |
| Citation information | RRID:IMSR_EM:15253 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/6J-Zfp469em1Chms/H |
| Alternative name | Zfp469 BCS |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Zfp469em1Chms |
| Gene/Transgene symbol | Zfp469 |
| Provider | Veronique Vitart |
| Provider affiliation | MRC HGU, University of Edinburgh |
| Genetic information | Zfp469em1Chms: this allele was generated by injecting Cas9 mRNA and guide RNAs resulting in an in-frame V5 tag and premature stop codon inserted into Zfp469 at p.Gly634, the conserved residue equivalent to the human mutation p.Gly677*. |
| Phenotypic information | Homozygous:Homozygous carriers of the Brittle Cornea Syndrome 1 (BCS1) allele have significantly thinner corneas as a result of stromal thinning. The structure of the cornea is altered, with thinner collagen fibrils and reduced biomechanical strength. Unlike the human condition of Brittle Cornea Syndrome, no instances of corneal rupture have been observed in these mice. Corneal thinning occurs during development and is not progressive (monitored up to 6 months of age). Histological investigation revealed reduced collagen deposition in the skin suggesting a more widespread connective tissue phenotype without obvious adverse effect or impact on welfare. The line has been aged to 9 months with no adverse affects observed. The mice are fertile.Heterozygous:No significant phenotypic difference with wild-type strain observed. |
| Breeding history | More than 10 backcrosses (C57BL/6J). |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
