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.

(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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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.

(2018) , Dis Model Mech , 11 , dmm036426

10.1242/dmm.036426

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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.

(2018) , EMBO J , 37 , e98684

10.15252/embj.201798684

PMC5983119

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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.

(2018) , Dis Model Mech , 11 , dmm031369

10.1242/dmm.031369

PMC5818078

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