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Homozygous Syngap (synaptic Ras GTPase activating protein 1 homolog (rat)) targeted mutation mice die in the first week after birth due to severe sensory deficit. Heterozygotes show partial deficits in synaptic plasticity. No gene product (protein) is detected by Western blot analysis of the brain isolated from homozygous animals.
Richard L Huganir, Johns Hopkins University School of Medicine
Mice that are heterozygous for the synaptic Ras GTPase activating protein 1 homolog targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes die in the first week after birth due to severe sensory deficit. Heterozygotes show partial deficits in synaptic plasticity. No gene product (protein) is detected by Western blot analysis of the brain isolated from homozygous animals. This strain may be useful in studies of neurodevelopment, glutamate receptor trafficking and the induction of long-term potentiation (LTP).
Exons 7 and 8 were replaced with a neomycin resistance cassette. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed once to C57BL/6J mice. This strain was maintained on a mixed C57BL/6J and 129 genetic background by the donating laboratory.
|Allele Name||targeted mutation 1, Richard L Huganir|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Syngap1, synaptic Ras GTPase activating protein 1 homolog (rat)|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|Molecular Note||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.|
|Mutations Made By|| |
Richard Huganir, Johns Hopkins University School of Medicine
When maintained as a live colony, heterozygotes may be bred. Homozygotes die within a week of birth. Backcrossing further to C57BL/6 may reduce viability even more.
When using the B6;129-Syngap1tm1Rlh/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008890 in your Materials and Methods section.