|  Help  |  About  |  Contact Us

Allele : Shank3<tm1Cmpl> SH3 and multiple ankyrin repeat domains 3; targeted mutation 1, Craig M Powell

Primary Identifier  MGI:5788281 Allele Type  Targeted
Attribute String  Modified isoform(s) Gene  Shank3
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  The targeting construct introduced upstream of exon 21 a lox P site, modified exon 21 containing an inserted G bp and a neomycin resistance and STOP cassette with a 3' loxP site. The resulting frameshift causes a premature STOP codon and loss of major higher molecular weight isoforms at the synapse. This insertion is present in patients with autism. Cre-mediated recombination is required to remove the modified exon and selection/STOP cassette.
  • mutations:
  • Insertion
  • synonyms:
  • Shank3<G>,
  • Shank3<G>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

6 Publication categories

Trail: Allele