|
|
| Nomenclature |
|
Symbol:
|
Shank3tm1Yhj
|
|
Name:
|
SH3/ankyrin domain gene 3;
targeted mutation 1, Yong-hui Jiang
|
|
MGI ID: |
MGI:5056336 |
|
Synonyms: |
Shank3e4-9 |
|
Gene:
|
Shank3
Location:
Chr15:89499623-89560261 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 (other) |
|
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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
1 reference(s)
|
|
Analysis Tools
