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EN
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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
