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.

Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes

Vo, P., Imai-Leonard, D. M., Yang, B., Briere, A., Shao, A., Casanova, M. I., Adams, D., Amano, T., Amarie, O., Berberovic, Z., Bower, L., Braun, R., Brown, S., Burrill, S., Cho, S. Y., Clementson-Mobbs, S., D'Souza, A., Dickinson, M., Eskandarian, M., Flenniken, A. M., Fuchs, H., Gailus-Durner, V., Heaney, J., Hérault, Y., Angelis, M. H., Hsu, C. W., Jin, S., Joynson, R., Kang, Y. K., Kim, H., Masuya, H., Meziane, H., Murray, S., Nam, K. H., Noh, H., Nutter, L. M. J., Palkova, M., Prochazka, J., Raishbrook, M. J., Riet, F., Ryan, J., Salazar, J., Seavey, Z., Seavitt, J. R., Sedlacek, R., Selloum, M., Seo, K. Y., Seong, J. K., Shin, H. S., Shiroishi, T., Stewart, M., Svenson, K., Tamura, M., Tolentino, H., Udensi, U., Wells, S., White, J., Willett, A., Wotton, J., Wurst, W., Yoshiki, A., Lanoue, L., Lloyd, K. C. K., Leonard, B. C., Roux, M. J., McKerlie, C., Moshiri, A.

(2025) , BMC Genomics , 26 , 48

10.1186/s12864-025-11222-8

PMC11744888

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An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division

Dalgliesh, C., Aldalaqan, S., Atallah, C., Best, A., Scott, E., Ehrmann, I., Merces, G., Mannion, J., Badurova, B., Sandher, R., Illing, Y., Wirth, B., Wells, S., Codner, G., Teboul, L., Smith, G. R., Hedley, A., Herbert, M., de Rooij, D. G., Miles, C., Reynard, L. N., Elliott, D. J.

(2025) , EMBO J , ,

10.1038/s44318-024-00344-6

39748121

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TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43

Godoy-Corchuelo, J. M., Ali, Z., Brito Armas, J. M., Martins-Bach, A. B., García-Toledo, I., Fernández-Beltrán, L. C., López-Carbonero, J. I., Bascuñana, P., Spring, S., Jimenez-Coca, I., Muñoz de Bustillo Alfaro, R. A., Sánchez-Barrena, M. J., Nair, R. R., Nieman, B. J., Lerch, J. P., Miller, K. L., Ozdinler, H. P., Fisher, E. M. C., Cunningham, T. J., Acevedo-Arozena, A., Corrochano, S.

(2024) , Neurobiol Dis , 193 , 106437

10.1016/j.nbd.2024.106437

38367882

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Pleiotropic brain function of whirlin identified by a novel mutation

Aguilar, C., Williams, D., Kurapati, R., Bains, R. S., Mburu, P., Parker, A., Williams, J., Concas, D., Tateossian, H., Haynes, A. R., Banks, G., Vikhe, P., Heise, I., Hutchison, M., Atkins, G., Gillard, S., Starbuck, B., Oliveri, S., Blake, A., Sethi, S., Kumar, S., Bardhan, T., Jeng, J. Y., Johnson, S. L., Corns, L. F., Marcotti, W., Simon, M., Wells, S., Potter, P. K., Lad, H. V.

(2024) , iScience , 27 , 110170

10.1016/j.isci.2024.110170

PMC11225360

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PKD1L1 Is Involved in Congenital Chylothorax

Whitchurch, J. B., Schneider, S., Hilger, A. C., Köllges, R., Stegmann, J. D., Waffenschmidt, L., Dyer, L., Thiele, H., Dhabhai, B., Dakal, T. C., Müller, A., Norris, D. P., Reutter, H. M.

(2024) , Cells , 13 , 149

10.3390/cells13020149

38247840

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