Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Arhgap6tm1Hzo
Name:	Rho GTPase activating protein 6; targeted mutation 1, Huda Y Zoghbi
MGI ID:	MGI:2447302
Gene:	Arhgap6  Location: ChrX:167578095-168087431 bp, + strand  Genetic Position: ChrX, 78.77 cM
Alliance:	Arhgap6tm1Hzo page

Germline Transmission:	Earliest citation of germline transmission: J:80946
Parent Cell Line:	AB2.1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 6, 7, and 8 were replaced with a cassette containing a neomycin resistance gene, a single loxP site, and a 5' portion of an hprt minigene. Sequence analysis of RT-PCR products verified the deletion of the targeted exons and the splicing of exon 5 to exon 9, resulting in frameshift and consequent nonsense mutation. The transcript encodes a truncated protein containing 2 putative SH3-binding domains. The single loxP site was inserted for use as a centromeric anchor point for a larger deletion extending from the rhoGAP domain of Arhgap6 through a 5' untranslated exon of Mid1, recapitulating a deletion associated with human MLS. (J:80946)

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Arhgap6 Mutation:	9 strains or lines available

Original:	J:80946 Prakash SK, et al., Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum Mol Genet. 2000 Mar 1;9(4):477-88
All:	2 reference(s)