Syngap1^tm1Rlh
Targeted Allele Detail

Summary

• Symbol: Syngap1^tm1Rlh
• 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: Syngap1^tm1Rlh 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 details: To 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)

Disease models

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)