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The gcd2 mutation affects the highly conserved R308 residue within the KIF18A motor domain. The gcd2 mutation is a G-to-A transition in exon 7. This is a missense mutation that changes an AGA codon to an AAA, leading to the single amino acid change, R308K. Arginine 308 is a highly conserved amino acid in the motor domain of the protein. (J:222418)
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
