SLC9A9 solute carrier family 9 member A9
Model Species
Mus musculusGene Aliases
5730527A11Rik, 9930105B05, AI854429,Nhe9Models / Rescue Models
-Rescue Model
-Model Summary
SLC9A9 deficient mice exhibit impaired social recognition but not social interaction, increased repetitive behaviors, and altered sensory processing together with hyperacidic endosomes, a cell-autonomous defect in glutamate receptor expression and impaired neurotransmitter release due to a defect in presynaptic Ca2+ entry. Acute inhibition of synaptic vesicle acidification rescues neurotransmitter release in SLC9A9 deficient mice.
External Links
Reports related to SLC9A9 (1 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry. | Ullman JC , et al. (2018) |
Show all Construct Details
Show all Phenotypic Profiles
M_SLC9A9_1_CKO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 5 of the Slc9a9 gene using Nestin-cre, in neurons and glia of the central and peripheral nervous system
Allele Type: Conditional loss-of-function
Strain of Origin: C57Bl/6Tn
Genetic Background: C57Bl/6
Es cell line: JM8A3.N1 embryonic stem (ES) cells (derived from C57Bl/6)
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | Not reported | Ullman JC , et al. (2018) |
| Motor phenotype | Hyperactivity | No change | Cliff avoidance test | Not reported | Ullman JC , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | Not reported | Ullman JC , et al. (2018) |
| Motor phenotype | General locomotor activity | No change | Cliff avoidance test | Not reported | Ullman JC , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Neurophysiology | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Repetitive behavior | Repetitive digging | Increased | Marble-burying test | Adult | Ullman JC , et al. (2018) |
| Seizure | Seizures | Increased | General observations | Not reported | Ullman JC , et al. (2018) |
| Sensory | Pain or nociception: thermal | No change | Hot plate test | Adult | Ullman JC , et al. (2018) |
| Sensory | Olfaction | No change | Buried food test | Adult | Ullman JC , et al. (2018) |
| Sensory | Olfaction | Abnormal | Olfactory discrimination test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Social memory | Decreased | Social recognition test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Social interaction: with juveniles | Decreased | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Social behavior | Social approach | No change | Three-chamber social approach test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Juvenile play | Decreased | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Social behavior | Allogrooming | Decreased | Home cage behavior | Adult | Ullman JC , et al. (2018) |
| Social behavior | Allogrooming | Decreased | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 4-6 months | Ullman JC , et al. (2018) |
| Developmental profile | Mortality/lethality | No change | Survival analysis | Not reported | Ullman JC , et al. (2018) |
| Emotion | Response to novelty | No change | Novel object recognition test | Not reported | Ullman JC , et al. (2018) |
| Emotion | Exploratory activity | No change | Novel object recognition test | Not reported | Ullman JC , et al. (2018) |
| Emotion | Anxiety | No change | Open field test | Not reported | Ullman JC , et al. (2018) |
| Emotion | Anxiety | No change | Elevated plus maze test | Not reported | Ullman JC , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Learning & memory | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | Not reported | Ullman JC , et al. (2018) |
| Molecular profile | Targeted expression | Decreased | Western blot | Not reported | Ullman JC , et al. (2018) |
M_SLC9A9_2_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Slc9a9 homozygous knocked out mice were generated by deleting exon 5 in Slc9A9 that introduces more than a dozen in-frame stop codons through the rest of the transcript.
Allele Type: knockout
Strain of Origin: C57Bl/6Tn
Genetic Background: C57Bl/6
Es cell line: JM8A3.N1 embryonic stem (ES) cells (derived from C57Bl/6)
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Motor phenotype | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synapse density | No change | Histology | Adult | Ullman JC , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuroreceptor levels: glutamate receptors: nmda receptors | No change | Western blot | Adult | Ullman JC , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuroreceptor levels: glutamate receptors: ampa receptors | No change | Western blot | Adult | Ullman JC , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine morphology | No change | Golgi-cox staining | Adult | Ullman JC , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | No change | Golgi-cox staining | Adult | Ullman JC , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity | No change | Golgi-cox staining | Adult | Ullman JC , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | No change | Histology | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission | Increased | Whole-cell patch clamp | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Presynaptic function: vesicle recycling | Decreased | Immunofluorescence staining | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | Increased | Whole-cell patch clamp | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | Increased | Whole-cell patch clamp | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Neurotransmitter metabolism: reuptake: glutamate | No change | Immunostaining | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Neurotransmitter metabolism: reuptake: gaba | No change | Immunostaining | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Neuronal ion channel activity | No change | Western blot | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Miniature post synaptic current frequency: inhibitory | No change | Whole-cell patch clamp | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Miniature post synaptic current frequency: excitatory | Increased | Whole-cell patch clamp | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Miniature post synaptic current amplitude: inhibitory | Decreased | Whole-cell patch clamp | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Miniature post synaptic current amplitude: excitatory | No change | Whole-cell patch clamp | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Local field potential | Decreased | In vivo local field potential (lfp) recordings | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Ion influx and permeability: calcium | Decreased | Immunofluorescence staining | Adult | Ullman JC , et al. (2018) |
| Neurophysiology | Decay kinetics of evoked post synaptic currents | Decreased | Immunofluorescence staining | Adult | Ullman JC , et al. (2018) |
| Repetitive behavior | Repetitive digging | Increased | Marble-burying test | Adult | Ullman JC , et al. (2018) |
| Seizure | Seizures | Increased | General observations | Not reported | Ullman JC , et al. (2018) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Increased | Electroencephalogram (eeg) | Adult | Ullman JC , et al. (2018) |
| Sensory | Pain or nociception: thermal | Decreased | Hot plate test | Adult | Ullman JC , et al. (2018) |
| Sensory | Olfaction | Abnormal | Olfactory discrimination test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Social memory | Decreased | Social recognition test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Social interaction: with juveniles | No change | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Social behavior | Juvenile play | Decreased | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Social behavior | Allogrooming | Decreased | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Social behavior | Allogrooming | No change | Home cage behavior | Adult | Ullman JC , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Developmental profile | Size/growth | No change | Body weight measurement | 4-6 months | Ullman JC , et al. (2018) |
| Developmental profile | Mortality/lethality | Increased | General observations | Not reported | Ullman JC , et al. (2018) |
| Emotion | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Learning & memory | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | Not reported | Ullman JC , et al. (2018) |
| Molecular profile | Targeted expression | Decreased | Western blot | Not reported | Ullman JC , et al. (2018) |
| Molecular profile | Protein expression level evidence | No change | Western blot | Adult | Ullman JC , et al. (2018) |
| Molecular profile | Protein expression level evidence | No change | Western blot | 3 weeks | Ullman JC , et al. (2018) |
| Molecular profile | Metabolite levels: neurometabolites | No change | Immunofluorescence staining | Adult | Ullman JC , et al. (2018) |
| Molecular profile | Calcium ion uptake | Decreased | Immunofluorescence staining | Adult | Ullman JC , et al. (2018) |
M_SLC9A9_3_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Slc9a9 heterozygous knocked out mice were generated by deleting exon 5 in Slc9A9 that introduces more than a dozen in-frame stop codons through the rest of the transcript.
Allele Type: knockout
Strain of Origin: C57Bl/6Tn
Genetic Background: C57Bl/6
Es cell line: JM8A3.N1 embryonic stem (ES) cells (derived from C57Bl/6)
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | Not reported | Ullman JC , et al. (2018) |
| Motor phenotype | Hyperactivity | No change | Cliff avoidance test | Not reported | Ullman JC , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | Not reported | Ullman JC , et al. (2018) |
| Motor phenotype | General locomotor activity | No change | Cliff avoidance test | Not reported | Ullman JC , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Neurophysiology | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | Adult | Ullman JC , et al. (2018) |
| Seizure | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Sensory | Olfaction | No change | Buried food test | Adult | Ullman JC , et al. (2018) |
| Sensory | Olfaction | No change | Olfactory discrimination test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Social memory | No change | Social recognition test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Social interaction: with juveniles | No change | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Social behavior | Social approach | No change | Three-chamber social approach test | Adult | Ullman JC , et al. (2018) |
| Social behavior | Juvenile play | Decreased | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Social behavior | Allogrooming | Decreased | Home cage behavior | 3 weeks | Ullman JC , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Communications | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Developmental profile | Size/growth | No change | Body weight measurement | 4-6 months | Ullman JC , et al. (2018) |
| Emotion | Response to novelty | No change | Novel object recognition test | Not reported | Ullman JC , et al. (2018) |
| Emotion | Exploratory activity | No change | Novel object recognition test | Not reported | Ullman JC , et al. (2018) |
| Emotion | Anxiety | No change | Open field test | Not reported | Ullman JC , et al. (2018) |
| Emotion | Anxiety | No change | Elevated plus maze test | Not reported | Ullman JC , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Learning & memory | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Ullman JC , et al. (2018) |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | Not reported | Ullman JC , et al. (2018) |
| Molecular profile | Targeted expression | Decreased | Western blot | Not reported | Ullman JC , et al. (2018) |
CNVs associated with SLC9A9(1 Models)
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| 3q24 | 13 | Deletion-Duplication | 23 / 41 |