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Syngap1tm1Rlh
Targeted Allele Detail
Summary
Symbol: Syngap1tm1Rlh
Name: synaptic Ras GTPase activating protein 1 homolog (rat); targeted mutation 1, Richard L Huganir
MGI ID: MGI:3576223
Gene: Syngap1  Location: Chr17:27160227-27191408 bp, + strand  Genetic Position: Chr17, 13.6 cM
Alliance: Syngap1tm1Rlh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:97391
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsTo eliminate all possible splice variants, exon 7, which contains the first common methionine present in the shortest splice variant, as well as exon 8, which encodes part of the C2 domain, were replaced with a neomycin resistance gene placed in the opposite orientation. Immunoblot of brain homogenates at P5 demonstrated that protein is abolished in mutants. Overexposure of the immunoblot showed a smear present at less than 2% of wild-type levels, likely made up of protein products resulting from cryptic start sites downstream of the deleted sequence. (J:97391)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
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 Syngap1 Mutation:  49 strains or lines available
References
Original:  J:97391 Kim JH, et al., The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity. J Neurosci. 2003 Feb 15;23(4):1119-24
All:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory