Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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: Chr15:89383826-89444464 bp, + strand  Genetic Position: Chr15, 44.96 cM
Alliance:	Shank3tm1Yhj page

Germline Transmission:	Earliest citation of germline transmission: J:173402
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	77 strains or lines available

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:	8 reference(s)