Phenotypes Associated with This Genotype

Genotype
MGI:6201596

• Allelic Composition: Slc9a9^{tm2d(KOMP)Wtsi}/Slc9a9^{tm2d(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

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

behavior/neurological

abnormal behavior ( J:258593 )

• fail to respond differently to non-social (food), social, and aversive scents unlike controls

increased stereotypic behavior ( J:258593 )

• increase in repetitive digging behavior

decreased thermal nociceptive threshold ( J:258593 )

abnormal social investigation ( J:258593 )

• reduced

abnormal social recognition ( J:258593 )

• impaired

abnormal social play behavior ( J:258593 )

• juveniles display reduced play soliciting

nervous system

abnormal synaptic vesicle exocytosis ( J:258593 )

• impaired synaptic vesicle exocytosis

abnormal brain wave pattern ( J:258593 )

• recurrent epileptiform activity accompanied by immobility

abnormal neuron physiology ( J:258593 )

• impaired synaptic vesicle exocytosis

• dendritic endosomes of neurons are more acidic compared to wild-type by ~0.3 pH units

• mean synaptic vesicle pH is reduced by ~0.15 units in hippocampal neurons

• however, cytosolic pH is similar to controls

• impaired presynaptic Ca2+ entry

abnormal CNS synaptic transmission ( J:258593 )

• paired pulse ratio is increased

abnormal excitatory postsynaptic potential ( J:258593 )

• small but significant reduction in field excitatory postsynaptic potentials normalized to the axonal fiber volley

abnormal miniature excitatory postsynaptic currents ( J:258593 )

• increased frequency but normal amplitude

• however, spine density in the CA1 stratum radiatum is similar to controls

decreased miniature inhibitory postsynaptic current amplitude ( J:258593 )

• decrease in amplitude but no change in frequency

cellular

abnormal cell physiology ( J:258593 )

• however, cytosolic pH is similar to controls

• dendritic endosomes of neurons are more acidic compared to wild-type by ~0.3 pH units

• mean synaptic vesicle pH is reduced by ~0.15 units in hippocampal neurons

abnormal synaptic vesicle exocytosis ( J:258593 )

• impaired synaptic vesicle exocytosis

growth/size/body

growth/size/body region phenotype ( J:258593 )

N • body weight is similar to controls

homeostasis/metabolism

abnormal pH regulation ( J:258593 )

• dendritic endosomes of neurons are more acidic compared to wild-type by ~0.3 pH units

• mean synaptic vesicle pH is reduced by ~0.15 units in hippocampal neurons

• however, cytosolic pH is similar to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:258593