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.

Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities

Stewart, M., Lau, P., Banks, G., Bains, R. S., Castroflorio, E., Oliver, P. L., Dixon, C. L., Kruer, M. C., Kullmann, D. M., Acevedo-Arozena, A., Wells, S. E., Corrochano, S., Nolan, P. M.

(2019) , Dis Model Mech , 12 , dmm036806

10.1242/dmm.036806

PMC6398485

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Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

Haq, N., Schmidt-Hieber, C., Sialana, F. J., Ciani, L., Heller, J. P., Stewart, M., Bentley, L., Wells, S., Rodenburg, R. J., Nolan, P. M., Forsythe, E., Wu, M. C., Lubec, G., Salinas, P., Hausser, M., Beales, P. L., Christou-Savina, S.

(2019) , PLoS Biol , 17 , e3000414

10.1371/journal.pbio.3000414

PMC6743795

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Clarin-2 is essential for hearing by maintaining stereocilia integrity and function

Dunbar, L. A., Patni, P., Aguilar, C., Mburu, P., Corns, L., Wells, H. R., Delmaghani, S., Parker, A., Johnson, S., Williams, D., Esapa, C. T., Simon, M. M., Chessum, L., Newton, S., Dorning, J., Jeyarajan, P., Morse, S., Lelli, A., Codner, G. F., Peineau, T., Gopal, S. R., Alagramam, K. N., Hertzano, R., Dulon, D., Wells, S., Williams, F. M., Petit, C., Dawson, S. J., Brown, S. D., Marcotti, W., El-Amraoui, A., Bowl, M. R.

(2019) , EMBO Mol Med , 11 , e10288

10.15252/emmm.201910288

PMC6728604

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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.

(2019) , J Bone Miner Res , 34 , 497-507

10.1002/jbmr.3624

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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.

(2018) , Proc Natl Acad Sci U S A , 115 , 5474-5479

10.1073/pnas.1801223115

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