Arhgap35^m1Bchd
Chemically induced Allele Detail

Summary

• Symbol: Arhgap35^m1Bchd
• Name: Rho GTPase activating protein 35; mutation 1, Maxime Bouchard
• MGI ID: MGI:5789382
• Synonyms: Arhgap35^D34
• Gene: Arhgap35 Location: Chr7:16228398-16349313 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Arhgap35^m1Bchd page

Exencephaly, spina bifida,and kidney hypodysplasia in E17.5 Arhgap35^m1Bchd/Arhgap35^m1Bchd mutants

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced an A to T nucleotide exchange that alters amino acid leucine 1396 to glutamine in the C-terminal RhoGAP domain. The L1396Q substitution is a loss-of-function mutation that results in decreased GTPase-activating protein (GAP) activity for the prototypical Rho family members, RhoA and Rac1, likely due to disrupted ordering of the Rho binding surface. (J:232342)

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• 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 Arhgap35 Mutation: 70 strains or lines available

References

• Original: J:232342 Stewart K, et al., A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects. PLoS Genet. 2016 Feb;12(2):e1005785
• All: 2 reference(s)