About   Help   FAQ
Shank3tm1Yhj
Targeted Allele Detail
Nomenclature
Symbol: Shank3tm1Yhj
Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 1, Yong-hui Jiang
MGI ID: MGI:5056336
Synonyms: Shank3e4-9, Shank3/J
Gene: Shank3  Location: Chr15:89499705-89560261 bp, + strand  Genetic Position: Chr15, 44.96 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:173402
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 4 through 9, which encode the ankyrin repeats, were replaced with a neo cassette. The absence of the 190 kDa but presence of of the 170 kDa and 140 kDa peptides was confirmed by western blot analysis on brian extracts. The a and b isoforms are deleted. (J:173402)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Shank3 Mutation:  15 strains or lines available
References
Original:  J:173402 Wang X, et al., Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet. 2011 Aug 1;20(15):3093-108
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/12/2019
MGI 6.13
The Jackson Laboratory