STOCK Arhgap35^m201Slp/J

Stock number: 017951
Research areas: Cell Biology Research, Developmental Biology Research, Neurobiology Research

Description

This ENU-generated mutation of Grlf1 creates a severe hypopmorphic allele associated defective cell adhesion signaling and abnormal development of the nervous system.

Detailed description

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.

Development

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

Symbol: Arhgap35^m201Slp
Name: mutation 201, Samuel L Pfaff
MGI accession ID: MGI:5307243
Generation method: Chemically induced (ENU)
Marker symbol: Arhgap35
Marker name: Rho GTPase activating protein 35
Chromosome: 7
Strain of origin: DBA/2J
Molecular note: ENU mutagenesis induced an I602N (A to T) mutation (NCBI Reference Sequence: NM_172739.4).