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.
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety
Moir, L., Bochukova, E. G., Dumbell, R., Banks, G., Bains, R. S., Nolan, P. M., Scudamore, C., Simon, M., Watson, K. A., Keogh, J., Henning, E., Hendricks, A., O'Rahilly, S., Barroso, I., UK10K consortium, Sullivan, A. E., Bersten, D. C., Whitelaw, M. L., Kirsch, S., Bentley, E., Farooqi, I. S., Cox, R. D.
Cinacalcet corrects hypercalcemia in mice with an inactivating Galpha11 mutation
Howles, S. A., Hannan, F. M., Gorvin, C. M., Piret, S. E., Paudyal, A., Stewart, M., Hough, T. A., Nesbit, M. A., Wells, S., Brown, S. D., Cox, R. D., Thakker, R. V.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Santiago-Sim, T., Burrage, L. C., Ebstein, F., Tokita, M. J., Miller, M., Bi, W., Braxton, A. A., Rosenfeld, J. A., Shahrour, M., Lehmann, A., Cogne, B., Kury, S., Besnard, T., Isidor, B., Bezieau, S., Hazart, I., Nagakura, H., Immken, L. L., Littlejohn, R. O., Roeder, E., Kara, B., Hardies, K., Weckhuysen, S., May, P., Lemke, J. R., Elpeleg, O., Abu-Libdeh, B., James, K. N., Silhavy, J. L., Issa, M. Y., Zaki, M. S., Gleeson, J. G., Seavitt, J. R., Dickinson, M. E., Ljungberg, M. C., Wells, S., Johnson, S. J., Teboul, L., Eng, C. M., Yang, Y., Kloetzel, P. M., Heaney, J. D., Walkiewicz, M. A.
A mutation in Nischarin causes otitis media via LIMK1 and NF-kappaB pathways
Crompton, M., Purnell, T., Tyrer, H. E., Parker, A., Ball, G., Hardisty-Hughes, R. E., Gale, R., Williams, D., Dean, C. H., Simon, M. M., Mallon, A. M., Wells, S., Bhutta, M. F., Burton, M. J., Tateossian, H., Brown, S. D. M.
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway
Esapa, C. T., Piret, S. E., Nesbit, M. A., Loh, N. Y., Thomas, G., Croucher, P. I., Brown, M. A., Brown, S. D., Cox, R. D., Thakker, R. V.