-
Domínguez-Ruiz M, Murillo-Cuesta S, Contreras J, et al. A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC Genomics. 2024; 25(1):359. DOI: 10.1186/s12864-024-10289-z. PMID: 38605287; PMCID: PMC11007912.
-
Guardia A, Fernández A, Seruggia D, et al. A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects. Invest Ophthalmol Vis Sci. 2023; 64(13):32. DOI: 10.1167/iovs.64.13.32. PMID: 37862028; PMCID: PMC10599165.
-
Perez CJ, Mecklenburg L, Fernandez A, et al. Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13. Exp Dermatol. 2022; 31(3):330-340. DOI: 10.1111/exd.14469. Epub 2021 Oct 25. PMID: 34657330.
Service Description:
The Mouse Embryo Cryopreservation Facility at the National Centre for Biotechnology (CNB-CSIC) offers the generation of genetically edited mice with CRISPR/Cas9 tools.