Data/hora: 10/06/2024 06:21:29

Provedor de dados: | Revista de Educação Continuada em Medicina Veterinária e Zootecnia do CRMV-SP
País: | Brazil

Título:

Characterization of a new mutation with loss of function in the Kmt2d gene in mice

Caracterização de uma nova mutação com perda de função do gene Kmt2d em camundongos

Autores: | Yamamoto, Pedro Kenzo; Oliveira, Nicássia Sousa; Marcondes, Geissiane de Moraes; Manes, Marianna; Gomes, Mariana de Souza Aranha Garcia; Bernardi, Maria Martha; Souza, Tiago Antônio de; Massironi, Sílvia Maria Gomes; Mori, Claudia Madalena Cabrera.
Data: | 2018-04-16
Ano: | 2018
Resumo: | The recessive mutant mouse named bate-palmas (bapa) – claps in Portuguese, originates from an ENU (N-ethyl-N-nitrosourea) mutagenesis program, presenting balance impairment and motor incoordination. Exome sequencing identified a mutation in the KMT2D gene, located on chromosome 15, which was confirmed by DNA sequence by the Sanger method. The loss of function of the gene KMT2D, located on chromosome 12 in humans, was described as being responsible for Kabuki syndrome, also known as Niikawa-Koruki syndrome, which is a rare congenital anomaly, autosomal dominant. The clinical phenotype of the disease is variable, but some common characteristics are dysmorphic facial features, skeletal abnormalities, fingerprint alterations, mild to moderate cognitive problems and postnatal growth retardation. The objective os this study was to analyze the behavior and craniofacial morphology of bapa mice comparing to KMT2D gene mutation models described on literature.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Português

Identificador:

http://www.revistamvez-crmvsp.com.br/index.php/recmvz/article/view/37709

10.36440/recmvz.v16i1.37709

Editor: | Conselho Regional de Medicina Veterinária e Zootecnia do Estado de São Paulo
Relação: | http://www.revistamvez-crmvsp.com.br/index.php/recmvz/article/view/37709/42412
Formato: | application/pdf

Fonte:

Revista de Educação Continuada em Medicina Veterinária e Zootecnia; Vol 16 No 1 (2018); 8-14

Revista de Educação Continuada em Medicina Veterinária e Zootecnia; Vol. 16 Núm. 1 (2018); 8-14

Revista de Educação Continuada em Medicina Veterinária e Zootecnia do CRMV-SP; v. 16 n. 1 (2018); 8-14

2596-1306

Fonte: | Copyright (c) 2018 Revista de Educação Continuada em Medicina Veterinária e Zootecnia do CRMV-SP