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.
An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice
Gorvin, C. M., Ahmad, B. N., Stechman, M. J., Loh, N. Y., Hough, T. A., Leo, P., Marshall, M., Sethi, S., Bentley, L., Piret, S. E., Reed, A., Jeyabalan, J., Christie, P. T., Wells, S., Simon, M. M., Mallon, A. M., Schulz, H., Huebner, N., Brown, M. A., Cox, R. D., Brown, S. D., Thakker, R. V.
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
Harris, A., Siggers, P., Corrochano, S., Warr, N., Sagar, D., Grimes, D. T., Suzuki, M., Burdine, R. D., Cong, F., Koo, B. K., Clevers, H., Stevant, I., Nef, S., Wells, S., Brauner, R., Ben Rhouma, B., Belguith, N., Eozenou, C., Bignon-Topalovic, J., Bashamboo, A., McElreavey, K., Greenfield, A.
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function
Findlay, A. S., Carter, R. N., Starbuck, B., McKie, L., Novakova, K., Budd, P. S., Keighren, M. A., Marsh, J. A., Cross, S. H., Simon, M. M., Potter, P. K., Morton, N. M., Jackson, I. J.
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis
Fratta, P., Sivakumar, P., Humphrey, J., Lo, K., Ricketts, T., Oliveira, H., Brito-Armas, J. M., Kalmar, B., Ule, A., Yu, Y., Birsa, N., Bodo, C., Collins, T., Conicella, A. E., Mejia Maza, A., Marrero-Gagliardi, A., Stewart, M., Mianne, J., Corrochano, S., Emmett, W., Codner, G., Groves, M., Fukumura, R., Gondo, Y., Lythgoe, M., Pauws, E., Peskett, E., Stanier, P., Teboul, L., Hallegger, M., Calvo, A., Chio, A., Isaacs, A. M., Fawzi, N. L., Wang, E., Housman, D. E., Baralle, F., Greensmith, L., Buratti, E., Plagnol, V., Fisher, E. M., Acevedo-Arozena, A.
Manipulation of dipeptidylpeptidase 10 in mouse and human in vivo and in vitro models indicates a protective role in asthma
Zhang, Y., Poobalasingam, T., Yates, L. L., Walker, S. A., Taylor, M. S., Chessum, L., Harrison, J., Tsaprouni, L., Adcock, I. M., Lloyd, C. M., Cookson, W. O., Moffatt, M. F., Dean, C. H.