This ENU-generated mutation of Grlf1 creates a severe hypopmorphic allele associated defective cell adhesion signaling and abnormal development of the nervous system.
Samuel L Pfaff, The Salk Institute
Grlf1 (glucocorticoid receptor DNA binding factor 1, also called p190 RhoGAP (GTPase activating protein)) is a potent Rho regulator that mediates integrin-dependent adhesion signaling in cultured cells. The gene is expressed at high levels throughout the developing nervous system.
This ENU-generated I602N mutation of Grlf1 creates a severe hypomorphic allele that displays phenotypes equivalent to those reported for the loss-of-function allele described in Brouns MR et al., Development 2000 Nov;127(22):4891-903. A small percentage of embryos are exencephalic and show neural tube closure defects that are likely linked to misregulation of cell adhesion processes.
Levels of the I602N transcript are unchanged in spinal cord and brain tissues, but protein levels are reduced. Mice homozygous for the mutation usually die within 2 days of birth.
This I602N (A>T) mutation (NCBI Reference Sequence: NM_172739.4) was generated by random ENU-induced mutagenesis of DBA/2J male mice. It was originally combined with a transgene and crossed with CB6F1 (BALB/c x C57BL/6) for approximately 6 generations by the donating laboratory. Upon arrival at The Jackson Laboratory, the two mutations were bred apart.
|Allele Name||mutation 201, Samuel L Pfaff|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Arhgap35, Rho GTPase activating protein 35|
|Strain of Origin||DBA/2J|
|Molecular Note||ENU mutagenesis induced an I602N (A to T) mutation (NCBI Reference Sequence: NM_172739.4).|
Heterozygous mice may be bred. Homozygotes usually die within 2 days of birth.
When using the STOCK Arhgap35m201Slp/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #017951 in your Materials and Methods section.