Phenotypes associated with this allele

• Allele Symbol: Syngap1^tm1.1Mabk
• Allele Name: targeted mutation 1.1, Mary B Kennedy
• Allele ID: MGI:3511175
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Syngap1^tm1.1Mabk/Syngap1^tm1.1Mabk	involves: 129S1/Sv * C57BL/6	MGI:3511176
cn2	Syngap1^tm1.1Mabk/Syngap1^tm1.2Mabk Tg(Camk2a-cre)2834Lusc/0	involves: 129S1/Sv * C57BL/6	MGI:3604393

Genotype
MGI:3511176

hm1

• 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

Genotype
MGI:3604393

cn2

• Allelic Composition: Syngap1^tm1.1Mabk/Syngap1^tm1.2Mabk; Tg(Camk2a-cre)2834Lusc/0
• Genetic Background: involves: 129S1/Sv * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:101084 )

• 12.6% (13 out of 103) referred to as "mini" were significantly smaller at P7 and died by 3 weeks after birth

• remaining mutant were phenotypically normal up to the forth postnatal week and their weight was statistically indistinguishable from controls

nervous system

increased neuron apoptosis ( J:101084 )

• many more neurons stain positively for activated caspase-3 in the brains of homozygous mice at 2 weeks and 8weeks after birth

• more activation of caspase-3 in the cell body layers of the hippocampus were found note: level of synGAP protein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group more activation of caspase-3 in the cell body layerof the hippocampus were found note: level of synGAP protein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group more activation of caspase-3 in the cell body layers of the hippocampus were found note: level of synGAProtein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group more activation of caspase-3 in the cell body layers of the hippocampus were found

• level of synGAP protein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group

• level of synGAP protein correlate with severity of neuronal apoptosis

cellular

increased neuron apoptosis ( J:101084 )

• many more neurons stain positively for activated caspase-3 in the brains of homozygous mice at 2 weeks and 8weeks after birth

• more activation of caspase-3 in the cell body layers of the hippocampus were found note: level of synGAP protein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group more activation of caspase-3 in the cell body layerof the hippocampus were found note: level of synGAP protein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group more activation of caspase-3 in the cell body layers of the hippocampus were found note: level of synGAProtein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group more activation of caspase-3 in the cell body layers of the hippocampus were found

• level of synGAP protein correspond to 20-25% of wild-type in ""mini"" group and 37.5% of wild-type in normal group

• level of synGAP protein correlate with severity of neuronal apoptosis