Phenotypics study of mutant embryos for the gene ADTK1 in mice

• Autor(es): Cunha, Nídia Sofia Maltez
• Data: 2011
• Identificador Persistente: http://hdl.handle.net/10400.1/3026
• Origem: Sapientia - Universidade do Algarve
• Assunto(s): Desenvolvimento embrionário; Formação óssea; Ratinho; Rins; Tubo Neural; Adtk1; PCP; Bone formation; Embryonic development; Kidney; Mouse
• Tipo de Documento: Dissertação de Mestrado
• Idioma: Inglês
• Orientador(es): Belo, José António

Descrição

Dissertação de mest., Ciências Biomédicas (Biologia do Desenvolvimento Embrionário), Departamento de Ciências Biomédicas e Medicina, Univ. do Algarve, 2011 A differential screening conducted to identify novel genes expressed in the anterior visceral endoderm (AVE) led to the isolation/identification of Adtk1, a gene coding for a protein with tyrosine and serine/threonine kinase domains. The analysis at birth of generated Adtk1 mouse mutants has been reported by our and other laboratories. Several defects were identified, namely the mutants were slightly smaller and had limbs with shortened long bones than wild-type littermates. In the course of this thesis it was observed that inbreeding Adtk1 mutation into the C57Bl6 background resulted in embryonic death identified by genotyped conceptus, suggesting the importance of this gene along the embryonic development. A more in-depth analysis of this mutation in mixed background (C57Bl6/DBA) revealed that Adtk1-/- animals also presented kidney defects. Furthermore, preliminary analysis of E9.5 Adtk1 KO embryos in a pure inbred background (C57Bl6) revealed that they display severe defects associated with neural tube closure.