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ea0019oc31 | Bone and Calcium | SFEBES2009

A mouse with a Trp589Arg mutation in N-acetylgalactosaminyltransferase 3 (Galnt3) provides a model for familial tumoural calcinosis

Esapa C , Head R , Chan C , Crane E , Cheeseman M , Hough T , McNally E , Carr A , Thomas G , Brown M , Croucher P , Brown S , Cox R , Thakker R

Investigations of bone disorders which are often inherited have yielded important insights in the molecular mechanisms of bone development, osteoporosis and osteoarthritis. However, these studies have been hampered by the lack of available patients and affected families. To overcome this limitation, we have investigated mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for hereditary bone disorders. Mice were kept in accordance with national welf...

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ea0019p6 | Bone | SFEBES2009

A Ser1386Pro mutation in the C-propeptide domain of Col2a1 results in spondyloepiphyseal dysplasia congenita in mice

Esapa C , Hough T , Testori S , Head R , Crane E , Chan C , McNally E , Carr A , Brown M , Croucher P , Nesbit M , Brown S , Cox R , Cheeseman M , Thakker R

We are investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) to establish models for hereditary bone disorders such as osteoporosis, osteoarthritis and skeletal dysplasias. We report on one such mouse model designated Longpockets (Lpk). Mice were kept in accordance with national welfare guidelines and project license restrictions. Lpk/+ mice are viable and fertile, present with short humeri by two weeks of birth and have a...

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Endocrine Abstracts

A mouse with a Trp589Arg mutation in N-acetylgalactosaminyltransferase 3 (Galnt3) provides a model for familial tumoural calcinosis

A Ser1386Pro mutation in the C-propeptide domain of Col2a1 results in spondyloepiphyseal dysplasia congenita in mice

BiosciAbstracts