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.
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice
Cheng, C., Cleak, J., Weiss, L., Cater, H., Stewart, M., Wells, S., Columbres, R. C., Shmara, A., Morato Torres, C. A., Zafar, F., Schüle, B., Neumann, J., Hatchwell, E., Kimonis, V.
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Leslie, J. S., Hjeij, R., Vivante, A., Bearce, E. A., Dyer, L., Wang, J., Rawlins, L., Kennedy, J., Ubeyratna, N., Fasham, J., Irons, Z. H., Craig, S. B., Koenig, J., George, S., Pode-Shakked, B., Bolkier, Y., Barel, O., Mane, S., Frederiksen, K. K., Wenger, O., Scott, E., Cross, H. E., Lorentzen, E., Norris, D. P., Anikster, Y., Omran, H., Grimes, D. T., Crosby, A. H., Baple, E. L.,
An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation
Hu, Y., Lauffer, P., Stewart, M., Codner, G., Mayerl, S., Heuer, H., Ng, L., Forrest, D., van Trotsenburg, P., Jongejan, A., Fliers, E., Hennekam, R., Boelen, A.
AKR1D1 knockout mice develop a sex dependent metabolic phenotype
Gathercole, L. L., Nikolaou, N., Harris, S. E., Arvaniti, A., Poolman, T. M., Hazlehurst, J. M., Kratschmar, D. V., Todorcevic, M., Moolla, A., Dempster, N., Pink, R. C., Saikali, M. F., Bentley, L., Penning, T. M., Ohlsson, C., Cummins, C. L., Poutanen, M., Odermatt, A., Cox, R. D., Tomlinson, J. W.
A Wars2 mutant mouse shows a sex and diet specific change in fat distribution, reduced food intake and depot-specific upregulation of WAT browning
Mušo, M., Bentley, L., Vizor, L., Yon, M., Burling, K., Barker, P., Zolkiewski, L. A. K., Cox, R. D., Dumbell, R.