Phenotypes associated with this allele

• Allele Symbol: Apba1^tm1.1Sud
• Allele Name: targeted mutation 1.1, Thomas C Sudhof
• Allele ID: MGI:2450729
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Apba1^tm1.1Sud/Apba1^tm1.1Sud	involves: 129S1/Sv * 129X1/SvJ	MGI:2450731
cn2	Apba1^tm1.1Sud/Apba1^tm1.1Sud Apba2^tm1.1Sud/Apba2^tm1.1Sud	involves: 129S1/Sv * 129X1/SvJ	MGI:3694737
cn3	Apba1^tm1.1Sud/Apba1^tm1.1Sud Apba3^tm1.1Sud/Apba3^tm1.1Sud	involves: 129S1/Sv * 129X1/SvJ	MGI:3694738
cn4	Apba1^tm1.1Sud/Apba1^tm1.1Sud Apba2^tm1.1Sud/Apba2^tm1.1Sud Apba3^tm1.1Sud/Apba3^tm1.1Sud	involves: 129S1/Sv * 129X1/SvJ	MGI:3694739

Genotype
MGI:2450731

cn1

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

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

growth/size/body

decreased body size ( J:81845 )

• mice exhibit slight but significant decrease in size compared to wild-type

nervous system

nervous system phenotype ( J:81845 )

N • mutants display normal paired pulse facilitation, use-dependent depression, posttetanic potentiation and long term potentiation

abnormal inhibitory postsynaptic currents ( J:81845 )

• inhibitory post synaptic currents (IPSCs) from CA1 pyramidal cells exhibit a large increase in paired pulse depression at short interstimulus intervals of <100 ms compared to wild-type

behavior/neurological

ataxia ( J:115573 )

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

Genotype
MGI:3694737

cn2

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

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

Genotype
MGI:3694738

cn3

• Allelic Composition: Apba1^tm1.1Sud/Apba1^tm1.1Sud; Apba3^tm1.1Sud/Apba3^tm1.1Sud
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, incomplete penetrance ( J:115573 )

• born in normal ratio; double mutants display survival deficit, with only ~20% survival postnatal

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

Genotype
MGI:3694739

cn4

• Allelic Composition: Apba1^tm1.1Sud/Apba1^tm1.1Sud; Apba2^tm1.1Sud/Apba2^tm1.1Sud; Apba3^tm1.1Sud/Apba3^tm1.1Sud
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, incomplete penetrance ( J:115573 )

• triple mutants display survival deficit, with only ~20% survival postnatal

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

nervous system

abnormal CNS synaptic transmission ( J:115573 )

• mice display decreased basal synaptic strength compared to Apba1-null mice

• in culture, when neonatal neurons homozygous for floxed Apba1, Apba2 and Apba3 alleles are treated with lentiviral cre, a ~30% reduction in miniature spontaneous current frequency in both excitatory and inhibitory synapses compared to control neurons

• synaptic response to hypertonic sucrose application is significantly decreased

abnormal inhibitory postsynaptic currents ( J:115573 )

• in response to hypertonic sucrose, currents are decreased ~45% in cultured, cre-treated neurons

• use-dependent depression in initially decreased at excitatory synapses during repetitive 10 Hz stimulation