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A CAG to CGG change in the ankyrin repeat region resulting in a glutamine to arginine mutation at amino acid 321 (Q321R) was introduced into exon 8. In addition, a floxed neomycin resistance gene was inserted upstream of exon 4 and was removed via cre-mediated recombination. Immunoblot analysis shows that that levels of Shank3a, the longest variant, are decreased by about 18% in homozygous brains. Heterozygotes show normal protein levels. This mutation was identified in a human individual with autism spectrum disorder. (J:281328)
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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References Literature
Title
PMID
Journal
Year
IF
