Arhgap35m1Bchd
Chemically induced Allele Detail
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Symbol: |
Arhgap35m1Bchd |
Name: |
Rho GTPase activating protein 35; mutation 1, Maxime Bouchard |
MGI ID: |
MGI:5789382 |
Synonyms: |
Arhgap35D34 |
Gene: |
Arhgap35 Location: Chr7:16228398-16349313 bp, - strand Genetic Position: Chr7, 9.15 cM
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Alliance: |
Arhgap35m1Bchd page
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Exencephaly, spina bifida,and kidney hypodysplasia in E17.5 Arhgap35m1Bchd/Arhgap35m1Bchd mutants
Show the 5 phenotype image(s) involving this allele.
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Allele Type: |
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Chemically induced (ENU) (Null/knockout) |
Mutation: |
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Single point mutation
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Arhgap35 Mutation: |
70 strains or lines available
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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: |
1 reference(s) |
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