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Allele : Shank3<em1Hzo> SH3 and multiple ankyrin repeat domains 3; endonuclease-mediated mutation 1, Huda Y Zoghbi

Primary Identifier	MGI:6259433	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Shank3
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

A CRISPR/Cas9-generated missense mutation (AGC to ATC; S685I) was introduced to exon 17 of the gene. This corresponds to the human S686I missense mutation found is some individuals with autism spectrum disorder.

mutations:
Nucleotide substitutions

earliestPublication:
Wang L, et al. (2020) An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry 25(10):2534-2555

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

4 Publication categories

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