Genetic Mouse Models / SLC9A9

SLC9A9 solute carrier family 9 member A9

Model Species
Mus musculus
Gene Aliases
5730527A11Rik, 9930105B05, AI854429,Nhe9
Reports
1
Associated Human Genes
SLC9A9
Models / 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.

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
Physiological parameters NA Not reported NA NA Ullman JC , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Ullman JC , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Ullman JC , et al. (2018)
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)
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)
3q24 13 Deletion-Duplication 23  /  41
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