Phenotypes Associated with This Genotype

Genotype
MGI:3511176

• Allelic Composition: Syngap1^tm1.1Mabk/Syngap1^tm1.1Mabk
• Genetic Background: involves: 129S1/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:93969 )

• mice generally died on P1 or by early P2

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:93969 )

• impaired motor skills

tremors ( J:93969 )

• displayed trembling by P1

weakness ( J:93969 )

• mice begin to weaken at P1

growth/size/body

postnatal growth retardation ( J:93969 )

• mice do not grow well and, by P1, become smaller than wild-type and develop a "failure-to-thrive" phenotype

nervous system

increased neuron apoptosis ( J:101084 )

• many more neurons stain positively for activated caspase-3 in the brains of homozygous mice at P1

• the differences can be seen in the hippocampus at E18 and is also evident at P0

• in the hippocampus, most of these apoptotic neurons are found in stratum oriens and the pyramidal layer

abnormal hippocampus pyramidal cell morphology ( J:93969 )

• spine maturation of hippocampal neurons cultured in vitro for 10 days from E16-E17 embryos occurred earlier than in wild-type neurons, with dendrites exhibiting an increase in the number of protrusions

increased miniature excitatory postsynaptic current amplitude ( J:93969 )

• neurons cultured in vitro for 9 days exhibited a higher frequency and larger amplitude of miniature EPSC than wild-type neurons

increased miniature excitatory postsynaptic current frequency ( J:93969 )

• neurons cultured in vitro for 9 days exhibited a higher frequency and larger amplitude of miniature EPSC than wild-type neurons

cellular

increased neuron apoptosis ( J:101084 )

• many more neurons stain positively for activated caspase-3 in the brains of homozygous mice at P1

• the differences can be seen in the hippocampus at E18 and is also evident at P0

• in the hippocampus, most of these apoptotic neurons are found in stratum oriens and the pyramidal layer