Phenotypes associated with this allele

• Allele Symbol: Slc17a7^tm1Edw
• Allele Name: targeted mutation 1, Robert H Edwards
• Allele ID: MGI:3617803
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc17a7^tm1Edw/Slc17a7^tm1Edw	involves: 129X1/SvJ	MGI:3618138

Genotype
MGI:3618138

hm1

• Allelic Composition: Slc17a7^tm1Edw/Slc17a7^tm1Edw
• Genetic Background: involves: 129X1/SvJ

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

mortality/aging

premature death ( J:105647 )

• fail to survive without special attention

• after 2-3 weeks of age, feed poorly

nervous system

abnormal axon morphology ( J:105647 )

• reduction in synaptic vesicles in a subset of mossy fibers in the granule layer of the cerebellum

abnormal synaptic vesicle number ( J:105647 )

• reduction in synaptic vesicles in a subset of mossy fibers in the granule layer of the cerebellum

abnormal single cell response ( J:105647 )

• reduced Purkinje cell response to parallel fibers

abnormal CNS synaptic transmission ( J:105647 )

abnormal excitatory postsynaptic potential ( J:105647 )

• fEPSP is substantially reduced in the CA1 striatum radiatum

• inhibitory postsynaptic currents unaffected

• loss of all residual EPSP activity in a subset of glutaminergic fibers after 2 months of age

decreased miniature excitatory postsynaptic current frequency ( J:105647 )

• frequency of miniature EPSC substantially reduced

abnormal neurotransmitter uptake ( J:105647 )

• reduced glutamate uptake by the brain

behavior/neurological

abnormal food intake ( J:105647 )

• after 2-3 weeks of age, feed poorly

increased startle reflex ( J:105647 )

• eventually develop an enhanced startle response if maintained alive after 2-3 weeks of age

impaired coordination ( J:105647 )

• eventually become uncoordinated if maintained alive after 2-3 weeks of age

vision/eye

blindness ( J:105647 )

• eventually become blind if maintained alive after 2-3 weeks of age