These mice carry ENU-induced mutations in Nubp1 (nucleotide binding protein 1)gene which is involved in regulation of centrosome dynamics and microtubule organization, and is essential for lung progenitor survival.
Lee Niswander, University of Colorado, Denver
Nubp1 (nucleotide binding protein 1) is expressed in lung progenitor cells of the distal epithelium. It has been demonstrated that the gene is involved with the regulation of centrosome dynamics and microtubule organization, and is essential for lung progenitor survival.
These mice carry ENU-induced C743A and C803A mutations in the Nubp1 gene. Homozygotes die immediately after birth due to suffocation. They also demonstrate syndactyly, eye cataract and lung hypoplasia. Heterozygous animals are viable and fertile. Mutant protein is stably expressed in the distal lung epithelium and disrupts the interactions with Nubp2 (nucleotide binding protein 2). Mutants show increased apoptosis accompanied by a loss of the distal progenitor markers.
ENU mutagenesis created C to A transversions at nucleotide positions 743 and 803 within the coding sequence of Nubp1 (nucleotide binding protein 1). This strain was created on a C57BL/6 genetic background, backcrossed to a 129 strain for 10 generations, then bred to FVB for an unknown number of generations to provide larger litters and better mating frequency. This strain was maintained on a mixed genetic background by the donating laboratory.
|Allele Name||mutation 1, Lee Niswander|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Nubp1, nucleotide binding protein 1|
|Strain of Origin||C57BL/6J|
|Molecular Note||ENU induced two C to A transversions at position 743 and 803 resulting in a Threonine to Lysine and Proline to Glutamine amino acid change, respectively. Protein expression is detected in the distal lung epithelium; however the interaction with Nubp2 is disrupted in vitro.|
Heterozygotes are viable and fertile. Homozygotes die shortly after birth due to suffocation.
When using the STOCK Nubp1m1Nisw/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #023840 in your Materials and Methods section.