Phenotypes Associated with This Genotype

Genotype
MGI:3694737

• Allelic Composition: Apba1^tm1.1Sud/Apba1^tm1.1Sud; Apba2^tm1.1Sud/Apba2^tm1.1Sud
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:115573 )

• double mutants display survival deficit, with only about 20% survival postnatal

• hours after birth, pups have no milk in their stomachs, become progressively weaker within twelve hours, and die within 24 hours

growth/size/body

decreased body size ( J:115573 )

• at 21 days of age, mutants are markedly smaller (runted) compared to littermates

decreased body weight ( J:115573 )

behavior/neurological

ataxia ( J:115573 )

• mutants display show major increases in ataxia index (area covered in 6 minutes/total distance traveled) compared to wild-type, indicating movement dysfunction

nervous system

abnormal CNS synaptic transmission ( J:115573 )

• mutants display decreased basal synaptic strength compared to Apba1-null mice, similar to double Apba1/2 knockouts

abnormal excitatory postsynaptic currents ( J:115573 )

• mutants show significant decrease in relationship between size of presynaptic fiber volley (input) and resulting field EPSCs (output) compared to Apba1-null mice indicating decreased basal synaptic strength

enhanced paired-pulse facilitation ( J:115573 )

• repetitive stimulation produces a much higher degree of facilitation compared to Apba1-null mice