Research supported by MLC
The MLC supports the work of many research groups across a diverse range of disease areas, including hearing loss, type 2 diabetes, sex determination, neurodegeneration and circadian function, to name a few. Such support can include detailed phenotyping in addition to generation and husbandry of mutant mouse lines.
Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of down syndrome-related phenotypes
Lana-Elola, E., Cater, H., Watson-Scales, S., Greenaway, S., Müller-Winkler, J., Gibbins, D., Nemes, M., Slender, A., Hough, T., Keskivali-Bond, P., Scudamore, C. L., Herbert, E., Banks, G. T., Mobbs, H., Canonica, T., Tosh, J., Noy, S., Llorian, M., Nolan, P. M., Griffin, J. L., Good, M., Simon, M., Mallon, A. M., Wells, S., Fisher, E. M. C., Tybulewicz, V. L. J.
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C
Cicek, D., Warr, N., Yesil, G., Kocak Eker, H., Bas, F., Poyrazoglu, S., Darendeliler, F., Direk, G., Hatipoglu, N., Eltan, M., Yavas Abalı, Z., Gurpinar Tosun, B., Kaygusuz, S. B., Seven Menevse, T., Helvacioglu, D., Turan, S., Bereket, A., Reeves, R., Simon, M., Mackenzie, M., Teboul, L., Greenfield, A., Guran, T.
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
Hannan, F. M., Stevenson, M., Bayliss, A. L., Stokes, V. J., Stewart, M., Kooblall, K. G., Gorvin, C. M., Codner, G., Teboul, L., Wells, S., Thakker, R. V.
ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity
Garone, M. G., Birsa, N., Rosito, M., Salaris, F., Mochi, M., de Turris, V., Nair, R. R., Cunningham, T. J., Fisher, E. M. C., Morlando, M., Fratta, P., Rosa, A.
A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background
Falcone, S., Nicol, T., Blease, A., Randles, M. J., Angus, E., Page, A., Tam, F. W. K., Pusey, C. D., Lennon, R., Potter, P. K.