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.

Gadd45g is required for timely Sry expression independently of RSPO1 activity

Warr, N., Siggers, P., May, J., Chalon, N., Pope, M., Wells, S., Chaboissier, M. C., Greenfield, A.

(2022) , Reproduction , 163 , 333-340

10.1530/rep-21-0443

PMC9066659

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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.

(2022) , Orphanet J Rare Dis , 17 , 386

10.1186/s13023-022-02446-y

PMC9594925

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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.,

(2022) , Genet Med , ,

10.1016/j.gim.2022.07.019

36074124

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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.

(2022) , Hum Mol Genet , 31 , 2951-2963

10.1093/hmg/ddac086

PMC9433735

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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.

(2022) , J Endocrinol , 253 , 97-113

10.1530/joe-21-0280

PMC9086936

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