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.

ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity

Garone, M. G., Birsa, N., Rosito, M., Salaris, F., Mochi, M., de Turris, V., Nair, R. R., Cunningham, T. J., Fisher, E. M. C., Morlando, M., Fratta, P., Rosa, A.

(2021) , Commun Biol , 4 , 1025

10.1038/s42003-021-02538-8

PMC8410767

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A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background

Falcone, S., Nicol, T., Blease, A., Randles, M. J., Angus, E., Page, A., Tam, F. W. K., Pusey, C. D., Lennon, R., Potter, P. K.

(2021) , Kidney Int , 101 , 527-540

10.1016/j.kint.2021.10.031

PMC8883398

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A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits

Cleverley, K., Lee, W. C., Mumford, P., Collins, T., Rickman, M., Cunningham, T. J., Cleak, J., Mianne, J., Szoke-Kovacs, Z., Stewart, M., Teboul, L., Maduro, C., Wells, S., Wiseman, F. K., Fisher, E. M. C.

(2021) , Mamm Genome , 32 , 94-103

10.1007/s00335-021-09864-6

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Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

Gaynor, K. U., Grigorieva, I. V., Mirczuk, S. M., Piret, S., Kooblall, K. G., Stevenson, M., Rizzoti, K., Bowl, M. R., Nesbit, M. A., Christie, P. T., Fraser, W. D., Hough, T., Whyte, M. P., Lovell-Badge, R., Thakker, R.

(2020) , Endocr Connect , 9 , 173-186

10.1530/ec-19-0478

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Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13

Livermore, C., Simon, M., Reeves, R., Stévant, I., Nef, S., Pope, M., Mallon, A. M., Wells, S., Warr, N., Greenfield, A.

(2020) , Genetics , 214 , 467-477

10.1534/genetics.119.302786

PMC7017026

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