Phenotypes Associated with This Genotype

Genotype
MGI:5085339

• Allelic Composition: Atad1^tm1.1Vdaw/Atad1^tm1.1Vdaw
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:173768 )

• 80% of mice die between P19 and P25 with a seizure-like syndrome

• remaining mice survive up to 8 weeks of age

nervous system

nervous system phenotype ( J:173768 )

N • mice exhibit normal pair-pulse facilitation

seizures ( J:173768 )

• 80% of mice die between P19 and P25 with a seizure-like syndrome

enhanced AMPA-mediated synaptic currents ( J:173768 )

• caused by increased AMPAR surface

enhanced long-term potentiation ( J:173768 )

increased miniature excitatory postsynaptic current amplitude ( J:173768 )

• miniature excitatory postsynaptic current (mEPSC) amplitudes are increased compared to in wild-type mice

• however, mEPSC frequencies are normal

absent long-term depression ( J:173768 )

behavior/neurological

seizures ( J:173768 )

• 80% of mice die between P19 and P25 with a seizure-like syndrome

growth/size/body

decreased body size ( J:173768 )

• at P5, P10, and P20