TY - JOUR
T1 - Mouse mutations disrupting somitogenesis and vertebral patterning
AU - Kusumi, Kenro
AU - Sewell, William
AU - O'Brien, Megan L.
PY - 2008
Y1 - 2008
N2 - The mouse was one of the first model organisms used in genetic analysis, beginning in 1902 with the studies of inheritance carried out by William E. Castle, Director of the Bussey Institute at Harvard1. The first mutations identified derived from mouse fanciers, who primarily selected coat color variants or neurobehavioral triats. However, disruptions affecting the axial skeleton were also reported early in the century. For example, the classic brachyury (T) short tail mutant was identified in a laboratory stock by Dobrovolskaïa-Zavadskaïa in 1927 and was subsequently cloned and found to be a member of the T-box family of transcription factors, required for the formation and differentiation of paraxial mesoderm2. Spontaneous mutations causing vertebral defects, including undulated (Pax1 un ) and pudgy (Dll3 pu ), have also been cloned and found to encode genes involved in somite patterning3,4. More recently, advances in genetic technologies have greatly expanded the number of mouse mutations with somite defects. These approaches include use of homologous recombination in embryonic stem (ES) cell lines to generate "knock-out" and "knock-in" mice, transgenic insertion of dominant-negative alleles and chemical mutagenesis by agents such as N-ethyl-N-nitrosourea (ENU). Mouse mutant phenotypes and signaling pathways have been studied and characterized through analysis of double mutants. These genetic studies in the mouse have yielded a tremendous amount of information about the process of mammalian somitogenesis.
AB - The mouse was one of the first model organisms used in genetic analysis, beginning in 1902 with the studies of inheritance carried out by William E. Castle, Director of the Bussey Institute at Harvard1. The first mutations identified derived from mouse fanciers, who primarily selected coat color variants or neurobehavioral triats. However, disruptions affecting the axial skeleton were also reported early in the century. For example, the classic brachyury (T) short tail mutant was identified in a laboratory stock by Dobrovolskaïa-Zavadskaïa in 1927 and was subsequently cloned and found to be a member of the T-box family of transcription factors, required for the formation and differentiation of paraxial mesoderm2. Spontaneous mutations causing vertebral defects, including undulated (Pax1 un ) and pudgy (Dll3 pu ), have also been cloned and found to encode genes involved in somite patterning3,4. More recently, advances in genetic technologies have greatly expanded the number of mouse mutations with somite defects. These approaches include use of homologous recombination in embryonic stem (ES) cell lines to generate "knock-out" and "knock-in" mice, transgenic insertion of dominant-negative alleles and chemical mutagenesis by agents such as N-ethyl-N-nitrosourea (ENU). Mouse mutant phenotypes and signaling pathways have been studied and characterized through analysis of double mutants. These genetic studies in the mouse have yielded a tremendous amount of information about the process of mammalian somitogenesis.
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U2 - 10.1007/978-0-387-09606-3_8
DO - 10.1007/978-0-387-09606-3_8
M3 - Article
C2 - 21038775
AN - SCOPUS:64749110716
SN - 0065-2598
VL - 638
SP - 140
EP - 163
JO - Advances in Experimental Medicine and Biology
JF - Advances in Experimental Medicine and Biology
ER -