Genetic Mouse Models / ADNP

ADNP Activity-dependent neuroprotector homeobox

Model Species
Mus musculus
Gene Aliases
AA589558; mKIAA0784
Reports
10
Associated Human Genes
ADNP
Models / Rescue Models
16 / 6
Rescue Model
-
Model Summary

The ADNP homozygous knock out causes embryonic lethality. The heterozygous mice have normal, slightly delayed development and show reduced neuronal survival and some changes in gene expression (e.g., some transcription factors like Pax6).

External Links
Reports related to ADNP (10 Reports)
# Type Title Author, Year
1 Additional Activity-dependent neuroprotective protein: a novel gene essential for brain formation. Pinhasov A , et al. (2003)
2 Primary Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. Vulih-Shultzman I , et al. (2007)
3 Additional Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. Vulih-Shultzman I , et al. (2007)
4 Additional Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies. Malishkevich A , et al. (2015)
5 Additional Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory. Amram N , et al. (2016)
6 Additional Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome. Hacohen-Kleiman G , et al. (2018)
7 Additional The autism/neuroprotection-linked ADNP/NAP regulate the excitatory glutamatergic synapse. Sragovich S , et al. (2019)
8 Additional The autism-mutated ADNP plays a key role in stress response. Sragovich S , et al. (2019)
9 Additional Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond Kapitansky O et al. (2020)
10 Additional Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies Karmon G et al. (2021)
Show all Construct Details Show all Phenotypic Profiles

M_ADNP_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Exons 3,4 and 5 of the Adnp gene were replaced with a neomycin cassette and a thymidine kinase gene, using homologous recombination. Following germline transmission the hetereozygous knockouts were crossed to generate homozygous mice.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6

Es cell line: 129/Sv
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Pinhasov A , et al. (2003)
Motor phenotype NA Not reported NA NA Pinhasov A , et al. (2003)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Pinhasov A , et al. (2003)
Neurophysiology NA Not reported NA NA Pinhasov A , et al. (2003)
Repetitive behavior NA Not reported NA NA Pinhasov A , et al. (2003)
Seizure NA Not reported NA NA Pinhasov A , et al. (2003)
Sensory NA Not reported NA NA Pinhasov A , et al. (2003)
Social behavior NA Not reported NA NA Pinhasov A , et al. (2003)
Physiological parameters NA Not reported NA NA Pinhasov A , et al. (2003)
Communications NA Not reported NA NA Pinhasov A , et al. (2003)
Developmental profile Mortality/lethality: embryonic Increased Survival analysis E8-e9.5 Pinhasov A , et al. (2003)
Developmental profile Mortality/lethality: embryonic Increased Histology E8-e9.5 Pinhasov A , et al. (2003)
Emotion NA Not reported NA NA Pinhasov A , et al. (2003)
Immune response NA Not reported NA NA Pinhasov A , et al. (2003)
Learning & memory NA Not reported NA NA Pinhasov A , et al. (2003)
Maternal behavior NA Not reported NA NA Pinhasov A , et al. (2003)
Molecular profile Gene expression Abnormal In situ hybridization (ish) E8-e8.5 Pinhasov A , et al. (2003)

M_ADNP_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

The knock out model was generated by replacing exons 3,4 and 5 with a neomycin cassette and adding a thymidine kinase gene at the negative selection marker.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Amram N , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Motor phenotype NA Not reported NA NA Amram N , et al. (2016)
Motor phenotype Swimming ability No change Morris water maze test 9 months Vulih-Shultzman I , et al. (2007)
Motor phenotype Swimming ability Decreased Morris water maze test 2 months Vulih-Shultzman I , et al. (2007)
Motor phenotype General locomotor activity No change Open field test 2 months Vulih-Shultzman I , et al. (2007)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Amram N , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain cytoarchitecture Increased Immunohistochemistry 10-11 months Vulih-Shultzman I , et al. (2007)
Neurophysiology Cytoskeletal organization: neuronal: axonal transport Decreased Manganese-enhanced magnetic resonance imaging (memri) 5 months Amram N , et al. (2016)
Neurophysiology NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Repetitive behavior NA Not reported NA NA Amram N , et al. (2016)
Repetitive behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Seizure NA Not reported NA NA Amram N , et al. (2016)
Seizure NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Sensory NA Not reported NA NA Amram N , et al. (2016)
Sensory NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Social behavior Social memory Decreased Three-chamber social approach test 8 months Amram N , et al. (2016)
Social behavior Social approach No change Three-chamber social approach test 8 months Amram N , et al. (2016)
Social behavior Social memory Decreased Reciprocal social interaction test Unreported Vulih-Shultzman I , et al. (2007)
Social behavior Social interaction: opposite sex Decreased Reciprocal social interaction test Unreported Vulih-Shultzman I , et al. (2007)
Physiological parameters NA Not reported NA NA Amram N , et al. (2016)
Physiological parameters NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Communications NA Not reported NA NA Amram N , et al. (2016)
Communications NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Developmental profile NA Not reported NA NA Amram N , et al. (2016)
Developmental profile Mortality/lethality No change General observations 0-9 weeks Vulih-Shultzman I , et al. (2007)
Developmental profile Developmental trajectory Decreased Histology E9-15 Vulih-Shultzman I , et al. (2007)
Emotion NA Not reported NA NA Amram N , et al. (2016)
Emotion NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Immune response NA Not reported NA NA Amram N , et al. (2016)
Immune response NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Learning & memory Olfactory learning and memory No change Olfactory habituation-dishabituation test 8 months Amram N , et al. (2016)
Learning & memory Spatial working memory Decreased Morris water maze test 2, 9 months Vulih-Shultzman I , et al. (2007)
Learning & memory Spatial reference memory Decreased Morris water maze test 2, 9 months Vulih-Shultzman I , et al. (2007)
Maternal behavior NA Not reported NA NA Amram N , et al. (2016)
Maternal behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Molecular profile Protein expression: in situ protein expression Decreased Immunohistochemistry 9 months Amram N , et al. (2016)
Molecular profile Protein expression: in situ protein expression Increased Immunohistochemistry 9 months Amram N , et al. (2016)
Molecular profile Protein expression: in situ protein expression Increased Immunohistochemistry 9 months Amram N , et al. (2016)
Molecular profile Protein expression: in situ protein expression Decreased Immunohistochemistry 9 months Amram N , et al. (2016)
Molecular profile Targeted expression Decreased Western blot 2, 9 months Vulih-Shultzman I , et al. (2007)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) 2, 9 months Vulih-Shultzman I , et al. (2007)
Molecular profile Protein phosphorylation Increased Western blot 2, 9 months Vulih-Shultzman I , et al. (2007)
Molecular profile Protein phosphorylation Increased Western blot 2, 9 months Vulih-Shultzman I , et al. (2007)

M_ADNP_1_KO_HT_NAP-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Heterozygous knockout mice were treated with NAP (peptide: NAPVSIPQ; Allon Therapeutics Inc.), new born mice were injected every day for 2 weeks, subcutaneously as follows: 20 ul (0.5 g of NAP per mouse, days 1-4); 40 ul (1 g of NAP per mouse, days 5-10) ; 80 ul (2 g per mouse, days 11-14). Mice were tested at the age of 2 months in behavioral assessment.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Motor phenotype Swimming ability Refractory Morris water maze test 2 months Vulih-Shultzman I , et al. (2007)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Neurophysiology NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Repetitive behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Seizure NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Sensory NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Social behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Physiological parameters NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Communications NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Developmental profile NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Emotion NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Immune response NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Learning & memory Spatial working memory Ameliorated Morris water maze test 2 months Vulih-Shultzman I , et al. (2007)
Learning & memory Spatial reference memory Ameliorated Morris water maze test 2 months Vulih-Shultzman I , et al. (2007)
Maternal behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Molecular profile Protein phosphorylation Ameliorated Western blot 2 months Vulih-Shultzman I , et al. (2007)
Molecular profile Protein phosphorylation Ameliorated Western blot 2 months Vulih-Shultzman I , et al. (2007)

M_ADNP_1_KO_HT_NAP-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

The heterozygous knock out mice were treated with NAP (peptide: NAPVSIPQ; Allon Therapeutics Inc.) intranasally at 0.5 g/5 ul per mouse for 2 weeks at the age of 2 months. The testing commenced during the second week of treatment, starting 1 hr after administration of NAP.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Motor phenotype NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Neurophysiology NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Repetitive behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Seizure NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Sensory NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Social behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Physiological parameters NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Communications NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Developmental profile NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Emotion NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Immune response NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Learning & memory Spatial working memory Ameliorated Morris water maze test 2 months Vulih-Shultzman I , et al. (2007)
Learning & memory Spatial reference memory Ameliorated Morris water maze test 2 months Vulih-Shultzman I , et al. (2007)
Maternal behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Molecular profile NA Not reported NA NA Vulih-Shultzman I , et al. (2007)

M_ADNP_1_KO_HT_NAP-3

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

These mice were treated with NAP (peptide: NAPVSIPQ; Allon Therapeutics Inc.) twice, once after birth (tested at 2 months) and the second time at 9 months of age. The first treatment with NAP was in newborn mice, every day for 2 weeks, s.c. of 20 ul (0.5 g of NAP per mouse, days 1-4); 40 ul (1 g of NAP per mouse, days 5-10) ; 80u l (2 g per mouse, days 11-14). Following that, the same mice were treated with NAP at 9 months of age , intranasally for 2 weeks. The testing commenced during the second week of treatment, starting 1 hr after administration of NAP.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Motor phenotype NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Neurophysiology NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Repetitive behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Seizure NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Sensory NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Social behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Physiological parameters NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Communications NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Developmental profile NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Emotion NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Immune response NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Learning & memory Spatial working memory Ameliorated Morris water maze test 9 months Vulih-Shultzman I , et al. (2007)
Learning & memory Spatial reference memory Ameliorated Morris water maze test 9 months Vulih-Shultzman I , et al. (2007)
Maternal behavior NA Not reported NA NA Vulih-Shultzman I , et al. (2007)
Molecular profile NA Not reported NA NA Vulih-Shultzman I , et al. (2007)

M_ADNP_1_KO_HT_SKIP-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Adnp het mice (5 months) were injected (i.p.) with 10ug/0.3 ml saline of SKIP- a four amino acid peptide derived from NAP that binds EB1/EB3 proteins (microtubule end binding proteins), prior to analysis in manganese enhanced MRI (MEMRI), these mice and the control group also inhaled 4 ul of 0.5 n manganese chloride solution (in PBS) through EACH nostril for preparation for MEMRI.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6*ICR

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Amram N , et al. (2016)
Motor phenotype NA Not reported NA NA Amram N , et al. (2016)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Amram N , et al. (2016)
Neurophysiology Cytoskeletal organization: neuronal: axonal transport Restored Manganese-enhanced magnetic resonance imaging (memri) 5 months Amram N , et al. (2016)
Repetitive behavior NA Not reported NA NA Amram N , et al. (2016)
Seizure NA Not reported NA NA Amram N , et al. (2016)
Sensory NA Not reported NA NA Amram N , et al. (2016)
Social behavior NA Not reported NA NA Amram N , et al. (2016)
Physiological parameters NA Not reported NA NA Amram N , et al. (2016)
Communications NA Not reported NA NA Amram N , et al. (2016)
Developmental profile NA Not reported NA NA Amram N , et al. (2016)
Emotion NA Not reported NA NA Amram N , et al. (2016)
Immune response NA Not reported NA NA Amram N , et al. (2016)
Learning & memory NA Not reported NA NA Amram N , et al. (2016)
Maternal behavior NA Not reported NA NA Amram N , et al. (2016)
Molecular profile NA Not reported NA NA Amram N , et al. (2016)

M_ADNP_1_KO_HT_SKIP-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Adnp het mice (6 months) were treated with intranasal (i.n.) administration of 2 ug/5ul of SKIP for 1 month and also 2 hr before behavior testing.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6*ICR

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Amram N , et al. (2016)
Motor phenotype NA Not reported NA NA Amram N , et al. (2016)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Amram N , et al. (2016)
Neurophysiology NA Not reported NA NA Amram N , et al. (2016)
Repetitive behavior NA Not reported NA NA Amram N , et al. (2016)
Seizure NA Not reported NA NA Amram N , et al. (2016)
Sensory NA Not reported NA NA Amram N , et al. (2016)
Social behavior Social memory Restored Three-chamber social approach test 8 months Amram N , et al. (2016)
Physiological parameters NA Not reported NA NA Amram N , et al. (2016)
Communications NA Not reported NA NA Amram N , et al. (2016)
Developmental profile NA Not reported NA NA Amram N , et al. (2016)
Emotion NA Not reported NA NA Amram N , et al. (2016)
Immune response NA Not reported NA NA Amram N , et al. (2016)
Learning & memory NA Not reported NA NA Amram N , et al. (2016)
Maternal behavior NA Not reported NA NA Amram N , et al. (2016)
Molecular profile Protein expression: in situ protein expression Restored Immunohistochemistry 9 months Amram N , et al. (2016)
Molecular profile Protein expression: in situ protein expression Refractory Immunohistochemistry 9 months Amram N , et al. (2016)
Molecular profile Protein expression: in situ protein expression Restored Immunohistochemistry 9 months Amram N , et al. (2016)
Molecular profile Protein expression: in situ protein expression Restored Immunohistochemistry 9 months Amram N , et al. (2016)

M_ADNP_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Adnp het knock out mice were maintained in the ICR outbred background to circumvent breding problems. This resulted in more aggressive mice than the inbred background (the authors have noted).

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6*ICR

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Sragovich S , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Sragovich S , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Malishkevich A , et al. (2015)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 9-12 months Sragovich S , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 9-12 months Sragovich S , et al. (2019)
Motor phenotype Motor coordination and balance Decreased Wire hang test 3-6 months Sragovich S , et al. (2019)
Motor phenotype Motor coordination and balance Decreased Wire hang test 3 weeks Hacohen-Kleiman G , et al. (2018)
Motor phenotype Grip strength Decreased Grip strength test 3 weeks Hacohen-Kleiman G , et al. (2018)
Motor phenotype Gait Decreased Footprint analysis 1 month Hacohen-Kleiman G , et al. (2018)
Motor phenotype General locomotor activity No change Open field test 5-6 months Malishkevich A , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Sragovich S , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: excitatory neurons Decreased Immunohistochemistry 7.5 month Sragovich S , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology Increased Diffusion tensor imaging (dti) 7-8 months Sragovich S , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dti: fractional anisotropy or relative anisotropy in brain regions Decreased Diffusion tensor imaging (dti) 7-8 months Sragovich S , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: synaptic bouton number Increased Immunohistochemistry Adult Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: mature boutons Decreased Immunohistochemistry Adult Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Decreased Immunohistochemistry Adult Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Decreased Fluorescence microscopy Adult Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Malishkevich A , et al. (2015)
Neurophysiology NA Not reported NA NA Sragovich S , et al. (2019)
Neurophysiology NA Not reported NA NA Sragovich S , et al. (2019)
Neurophysiology NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Neurophysiology NA Not reported NA NA Malishkevich A , et al. (2015)
Repetitive behavior NA Not reported NA NA Sragovich S , et al. (2019)
Repetitive behavior NA Not reported NA NA Sragovich S , et al. (2019)
Repetitive behavior NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Repetitive behavior NA Not reported NA NA Malishkevich A , et al. (2015)
Seizure NA Not reported NA NA Sragovich S , et al. (2019)
Seizure NA Not reported NA NA Sragovich S , et al. (2019)
Seizure NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Seizure NA Not reported NA NA Malishkevich A , et al. (2015)
Sensory Olfaction No change Olfactory discrimination test 9-12 months Sragovich S , et al. (2019)
Sensory Olfaction Decreased Olfactory discrimination test 3-6 months Sragovich S , et al. (2019)
Sensory Olfaction Increased Olfactory discrimination test 3-6 months Sragovich S , et al. (2019)
Sensory Olfaction Decreased Olfactory discrimination test Adult Hacohen-Kleiman G , et al. (2018)
Sensory NA Not reported NA NA Malishkevich A , et al. (2015)
Social behavior Social memory Decreased Three-chamber social approach test 9-12 months Sragovich S , et al. (2019)
Social behavior Social approach No change Three-chamber social approach test 9-12 months Sragovich S , et al. (2019)
Social behavior Social approach Decreased Three-chamber social approach test 9-12 months Sragovich S , et al. (2019)
Social behavior Social memory Decreased Three-chamber social approach test 3-6 months Sragovich S , et al. (2019)
Social behavior Social approach No change Three-chamber social approach test 3-6 months Sragovich S , et al. (2019)
Social behavior Social memory Decreased Social recognition test Adult Hacohen-Kleiman G , et al. (2018)
Social behavior Social approach Decreased Three-chamber social approach test Adult Hacohen-Kleiman G , et al. (2018)
Social behavior Social memory Decreased Three-chamber social approach test 7-8 months Malishkevich A , et al. (2015)
Social behavior Social approach No change Three-chamber social approach test 7-8 months Malishkevich A , et al. (2015)
Physiological parameters NA Not reported NA NA Sragovich S , et al. (2019)
Physiological parameters NA Not reported NA NA Sragovich S , et al. (2019)
Physiological parameters NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Physiological parameters NA Not reported NA NA Malishkevich A , et al. (2015)
Communications NA Not reported NA NA Sragovich S , et al. (2019)
Communications NA Not reported NA NA Sragovich S , et al. (2019)
Communications Ultrasonic vocalization: isolation induced Decreased Monitoring ultrasonic vocalizations P8 Hacohen-Kleiman G , et al. (2018)
Communications NA Not reported NA NA Malishkevich A , et al. (2015)
Developmental profile NA Not reported NA NA Sragovich S , et al. (2019)
Developmental profile NA Not reported NA NA Sragovich S , et al. (2019)
Developmental profile Size/growth Decreased Body length measurement P0-3 weeks Hacohen-Kleiman G , et al. (2018)
Developmental profile Size/growth Decreased Body weight measurement P0-p21 Hacohen-Kleiman G , et al. (2018)
Developmental profile Developmental trajectory Abnormal Developmental milestone measurements P5-20 Hacohen-Kleiman G , et al. (2018)
Developmental profile NA Not reported NA NA Malishkevich A , et al. (2015)
Emotion Anxiety No change Elevated plus maze test 9-12 months Sragovich S , et al. (2019)
Emotion NA Not reported NA NA Sragovich S , et al. (2019)
Emotion NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Emotion NA Not reported NA NA Malishkevich A , et al. (2015)
Immune response NA Not reported NA NA Sragovich S , et al. (2019)
Immune response NA Not reported NA NA Sragovich S , et al. (2019)
Immune response NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Immune response NA Not reported NA NA Malishkevich A , et al. (2015)
Learning & memory Object recognition memory: long-term recall Decreased Novel object recognition test 9-12 months Sragovich S , et al. (2019)
Learning & memory Object recognition memory: long-term recall No change Novel object recognition test 9-12 months Sragovich S , et al. (2019)
Learning & memory Olfactory learning and memory No change Olfactory discrimination test 3-6 months Sragovich S , et al. (2019)
Learning & memory Object recognition memory Decreased Novel object recognition test 3-6 months Sragovich S , et al. (2019)
Learning & memory Object recognition memory Decreased Novel object recognition test Adult Hacohen-Kleiman G , et al. (2018)
Learning & memory Olfactory learning and memory No change Olfactory habituation-dishabituation test 7 months Malishkevich A , et al. (2015)
Learning & memory Object recognition memory Decreased Novel object recognition test 7 months Malishkevich A , et al. (2015)
Maternal behavior NA Not reported NA NA Sragovich S , et al. (2019)
Maternal behavior NA Not reported NA NA Sragovich S , et al. (2019)
Maternal behavior NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Maternal behavior NA Not reported NA NA Malishkevich A , et al. (2015)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) 9-12 months Sragovich S , et al. (2019)
Molecular profile Gene expression Decreased Quantitative pcr (qrt-pcr) 1, 5 months Sragovich S , et al. (2019)
Molecular profile Gene expression No change Quantitative pcr (qrt-pcr) 1, 5 months Sragovich S , et al. (2019)
Molecular profile Gene expression Increased Quantitative pcr (qrt-pcr) 1, 5 months Sragovich S , et al. (2019)
Molecular profile Gene expression No change Quantitative pcr (qrt-pcr) 7.5 month Sragovich S , et al. (2019)
Molecular profile Gene expression Decreased Quantitative pcr (qrt-pcr) 7.5 month Sragovich S , et al. (2019)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) 2.7-3 weeks Hacohen-Kleiman G , et al. (2018)
Molecular profile Gene expression Abnormal Quantitative pcr (qrt-pcr) 2.7-3 weeks, 3 months Hacohen-Kleiman G , et al. (2018)
Molecular profile Gene expression Increased Quantitative pcr (qrt-pcr) 7 months Malishkevich A , et al. (2015)

M_ADNP_2_KO_HT_NAP

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Preweaning, mouse pups were subcutaneously administrated NAP (25 microgram/ml saline) for 21 consecutive days in increasing volumes in doses of 20, 40, 80, 120 and 160 microliters on postnatal days 1-4, 5-7, 9-10, 11-14, 15-18 and 19-21 respectively, followed by daily intranasal NAP treatment in vehicle (DD) at 0.5 microgram per 5 microliter, post-weaning at 21 days.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6*ICR

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Motor phenotype Motor coordination and balance Restored Wire hang test 3 weeks Hacohen-Kleiman G , et al. (2018)
Motor phenotype Grip strength Restored Grip strength test 3 weeks Hacohen-Kleiman G , et al. (2018)
Motor phenotype Gait Ameliorated Footprint analysis 1 month Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: synaptic bouton number Ameliorated Immunohistochemistry Adult Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: synaptic bouton number Side effect Immunohistochemistry Adult Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: mature boutons Restored Immunohistochemistry Adult Hacohen-Kleiman G , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Fluorescence microscopy Adult Hacohen-Kleiman G , et al. (2018)
Neurophysiology NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Repetitive behavior NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Seizure NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Sensory Olfaction Restored Olfactory discrimination test Adult Hacohen-Kleiman G , et al. (2018)
Social behavior Social memory Decreased Social recognition test Adult Hacohen-Kleiman G , et al. (2018)
Social behavior Social approach Restored Three-chamber social approach test Adult Hacohen-Kleiman G , et al. (2018)
Physiological parameters NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Communications Ultrasonic vocalization: isolation induced Restored Monitoring ultrasonic vocalizations P8 Hacohen-Kleiman G , et al. (2018)
Developmental profile Size/growth Restored Body weight measurement P0-p21 Hacohen-Kleiman G , et al. (2018)
Developmental profile Size/growth Refractory Body length measurement P0-3 weeks Hacohen-Kleiman G , et al. (2018)
Developmental profile Developmental trajectory Ameliorated Developmental milestone measurements P5-20 Hacohen-Kleiman G , et al. (2018)
Emotion NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Immune response NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Learning & memory Object recognition memory Restored Novel object recognition test NA Hacohen-Kleiman G , et al. (2018)
Maternal behavior NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)
Molecular profile NA Not reported NA NA Hacohen-Kleiman G , et al. (2018)

M_ADNP_2_KO_HT_NAP-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

3-6 month old male M_ADNP_2_KO_HT_NAP mice were administered NAP labelled with cy 5.0 on the amino terminal end, once daily at 0.5 microgram in 5 microliters for one month. NAP was dissolved in chlorbutanol to increase bioavailability through the blood-brain-barrier.

Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6*ICR

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Sragovich S , et al. (2019)
Motor phenotype Motor coordination and balance Ameliorated Wire hang test 3-6 months Sragovich S , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: excitatory neurons Restored Immunohistochemistry 7.5 month Sragovich S , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology Refractory Diffusion tensor imaging (dti) 7-8 months Sragovich S , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dti: fractional anisotropy or relative anisotropy in brain regions Ameliorated Diffusion tensor imaging (dti) 7-8 months Sragovich S , et al. (2019)
Neurophysiology NA Not reported NA NA Sragovich S , et al. (2019)
Repetitive behavior NA Not reported NA NA Sragovich S , et al. (2019)
Seizure NA Not reported NA NA Sragovich S , et al. (2019)
Sensory Olfaction Restored Olfactory discrimination test 3-6 months Sragovich S , et al. (2019)
Social behavior Social memory Restored Three-chamber social approach test 3-6 months Sragovich S , et al. (2019)
Social behavior Social approach No adverse effect Three-chamber social approach test 3-6 months Sragovich S , et al. (2019)
Physiological parameters NA Not reported NA NA Sragovich S , et al. (2019)
Communications NA Not reported NA NA Sragovich S , et al. (2019)
Developmental profile NA Not reported NA NA Sragovich S , et al. (2019)
Emotion NA Not reported NA NA Sragovich S , et al. (2019)
Immune response NA Not reported NA NA Sragovich S , et al. (2019)
Learning & memory Olfactory learning and memory No adverse effect Olfactory discrimination test 3-6 months Sragovich S , et al. (2019)
Learning & memory Object recognition memory Restored Novel object recognition test 3-6 months Sragovich S , et al. (2019)
Maternal behavior NA Not reported NA NA Sragovich S , et al. (2019)
Molecular profile Gene expression No adverse effect Quantitative pcr (qrt-pcr) 7.5 month Sragovich S , et al. (2019)
Molecular profile Gene expression Refractory Quantitative pcr (qrt-pcr) 7.5 month Sragovich S , et al. (2019)
Molecular profile Gene expression Side effect Quantitative pcr (qrt-pcr) 7.5 month Sragovich S , et al. (2019)
Molecular profile Gene expression Restored Quantitative pcr (qrt-pcr) 7.5 month Sragovich S , et al. (2019)

M_ADNP_3_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

ADNP exons 3, 4, and 5 were replaced with a neomycin selection cassette inserted by homologous recombination. The mouse model is identical to the construct of model M_ADNP_2_KO_HT but on a different background.

Allele Type: Targeted (knockout)
Strain of Origin: NA
Genetic Background: ICR

Es cell line: NA
Model Source: PMID 30106381 (Hacohen-Kleiman et al. 2018)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Spontaneous movement Increased Open field test 2.5 months Kapitansky O et al. (2020)
Motor phenotype Spontaneous movement Decreased Open field test 2.5 months Kapitansky O et al. (2020)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 2.5 months Kapitansky O et al. (2020)
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 2.5 months Kapitansky O et al. (2020)
Motor phenotype General locomotor activity No change Open field test 2.5 months Kapitansky O et al. (2020)
Motor phenotype General locomotor activity Increased Open field test 2.5 months Kapitansky O et al. (2020)
Social behavior Social memory No change Three-chamber social approach test 2.5 months Kapitansky O et al. (2020)
Social behavior Social memory Decreased Three-chamber social approach test 2.5 months Kapitansky O et al. (2020)
Social behavior Social approach Decreased Three-chamber social approach test 2.5 months Kapitansky O et al. (2020)
Social behavior Social approach No change Three-chamber social approach test 2.5 months Kapitansky O et al. (2020)
Physiological parameters Intestinal microbiota composition Increased 16s rrna gene sequence analysis for identification of bacteria 1.5 months Kapitansky O et al. (2020)
Physiological parameters Intestinal microbiota composition Abnormal 16s rrna gene sequence analysis for identification of bacteria 1.5 months Kapitansky O et al. (2020)
Developmental profile Size/growth No change Body weight measurement 2.5 months Kapitansky O et al. (2020)
Developmental profile Size/growth Decreased Body weight measurement 2.5 months Kapitansky O et al. (2020)
Emotion Anxiety No change Open field test 2.5 months Kapitansky O et al. (2020)
Emotion Anxiety Decreased Open field test 2.5 months Kapitansky O et al. (2020)

M_ADNP_3_KO_HT_NAP

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

One month old mutant male and female mice received daily intranasal NAP at 0.5 microgram/5 microL/mouse/dose. Nasal NAP application was performed daily, once a day, for 45 days (5 days a week). After 45 days of treatment, on days of scheduled behavioral tests, NAP was applied 2 h before the test.

Allele Type: Targeted (knockout)
Strain of Origin: NA
Genetic Background: ICR

Es cell line: NA
Model Source: PMID 30106381 (Hacohen-Kleiman et al. 2018)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype General locomotor activity: ambulatory activity Restored Open field test 2.5 months Kapitansky O et al. (2020)
Motor phenotype General locomotor activity Restored Open field test 2.5 months Kapitansky O et al. (2020)
Social behavior Social memory Restored Three-chamber social approach test 2.5 months Kapitansky O et al. (2020)
Social behavior Social approach Restored Three-chamber social approach test 2.5 months Kapitansky O et al. (2020)
Physiological parameters Intestinal microbiota composition Restored 16s rrna gene sequence analysis for identification of bacteria 1.5 months Kapitansky O et al. (2020)
Emotion Anxiety Restored Open field test 2.5 months Kapitansky O et al. (2020)

M_ADNP_3_KO_HT_STRESS

Model Type: Multifactorial
Model Genotype: Heterozygous

Mutation:

Adnp heterozygous knockout mice with exons 3, 4 and 5 of the adnp gene replaced with a neomycin cassette and a thymidine kinase gene, are exposed to a stress challenge through 48 hours of solitude in clean cage under constant bright illumination of about 500 lux.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL*129/Sv*ICR

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Sragovich S , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 9-12 months Sragovich S , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 9-12 months Sragovich S , et al. (2019)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Sragovich S , et al. (2019)
Neurophysiology NA Not reported NA NA Sragovich S , et al. (2019)
Repetitive behavior NA Not reported NA NA Sragovich S , et al. (2019)
Seizure NA Not reported NA NA Sragovich S , et al. (2019)
Sensory Olfaction No change Olfactory discrimination test 9-12 months Sragovich S , et al. (2019)
Social behavior Social memory Decreased Three-chamber social approach test 9-12 months Sragovich S , et al. (2019)
Social behavior Social approach Decreased Three-chamber social approach test 9-12 months Sragovich S , et al. (2019)
Physiological parameters NA Not reported NA NA Sragovich S , et al. (2019)
Communications NA Not reported NA NA Sragovich S , et al. (2019)
Developmental profile NA Not reported NA NA Sragovich S , et al. (2019)
Emotion Anxiety No change Elevated plus maze test 9-12 months Sragovich S , et al. (2019)
Emotion Anxiety Decreased Elevated plus maze test 9-12 months Sragovich S , et al. (2019)
Immune response NA Not reported NA NA Sragovich S , et al. (2019)
Learning & memory Object recognition memory: long-term recall Decreased Novel object recognition test 9-12 months Sragovich S , et al. (2019)
Maternal behavior NA Not reported NA NA Sragovich S , et al. (2019)
Molecular profile Targeted expression No change Quantitative pcr (qrt-pcr) 9-12 months Sragovich S , et al. (2019)

M_ADNP_3_KO_HT_STRESS_PACAP

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

912-month-old mice were treated twice daily 5 days a week with PACAP for one month with intranasal administration 5ug/5ul/mouse. In days of scheduled behavioral tests, PACAP was applied once a day, 2 h before the test.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL*129/Sv*ICR

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Sragovich S , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity No adverse effect Open field test 9-12 months Sragovich S , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity Restored Open field test 9-12 months Sragovich S , et al. (2019)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Sragovich S , et al. (2019)
Neurophysiology NA Not reported NA NA Sragovich S , et al. (2019)
Repetitive behavior NA Not reported NA NA Sragovich S , et al. (2019)
Seizure NA Not reported NA NA Sragovich S , et al. (2019)
Sensory Olfaction Side effect Olfactory discrimination test 9-12 months Sragovich S , et al. (2019)
Social behavior Social memory Restored Three-chamber social approach test 9-12 months Sragovich S , et al. (2019)
Social behavior Social approach Restored Three-chamber social approach test 9-12 months Sragovich S , et al. (2019)
Physiological parameters NA Not reported NA NA Sragovich S , et al. (2019)
Communications NA Not reported NA NA Sragovich S , et al. (2019)
Developmental profile NA Not reported NA NA Sragovich S , et al. (2019)
Emotion Anxiety No adverse effect Elevated plus maze test 9-12 months Sragovich S , et al. (2019)
Emotion Anxiety Restored Elevated plus maze test 9-12 months Sragovich S , et al. (2019)
Immune response NA Not reported NA NA Sragovich S , et al. (2019)
Learning & memory Object recognition memory: long-term recall Restored Novel object recognition test 9-12 months Sragovich S , et al. (2019)
Maternal behavior NA Not reported NA NA Sragovich S , et al. (2019)
Molecular profile Targeted expression No adverse effect Quantitative pcr (qrt-pcr) 9-12 months Sragovich S , et al. (2019)

M_ADNP_4_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Try model carries the nm_001310086 (adnp_v001) c.2154t>a, p.tyr718* mutation; animals express a truncated adnp protein that lacks the nuclear localization signal

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6NJ

Es cell line: C57BL/6N
Model Source: Karmon et al., 2021
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Righting response decreased Righting reflex test P8-21 Karmon G et al. (2021)
Motor phenotype Motor coordination and balance no change Wire hang test Adult Karmon G et al. (2021)
Motor phenotype Motor coordination and balance decreased Wire hang test Adult Karmon G et al. (2021)
Motor phenotype Gait abnormal Running stride analysis P70 Karmon G et al. (2021)
Motor phenotype Gait abnormal Running stride analysis P70 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Ultrasonic vocalization: isolation induced abnormal Spectographic analysis of vocalization recordings P8 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Ultrasonic vocalization: isolation induced decreased Spectographic analysis of vocalization recordings P8 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: excitatory decreased Immunohistochemistry P42 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Ear twitch reflex or preyer's reflex increased Preyer's Reflex test P7-15 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density decreased Immunohistochemistry P42 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density no change Immunohistochemistry P42 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density no change Immunohistochemistry P42 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density decreased Immunohistochemistry P42 Karmon G et al. (2021)
Repetitive behavior Self grooming increased Open field test Adult Karmon G et al. (2021)
Sensory Vision increased Cliff avoidance test P1-14 Karmon G et al. (2021)
Sensory Startle response: acoustic stimulus decreased Acoustic startle reflex test P7-18 Karmon G et al. (2021)
Sensory Sensory-evoked response: inhibition: visual stimulus abnormal In vivo local field potential (LFP) recordings P42 Karmon G et al. (2021)
Sensory Rooting reflex no change Developmental milestone measurements P1-12 Karmon G et al. (2021)
Sensory Pain or nociception decreased Hot plate test Adult Karmon G et al. (2021)
Sensory Olfaction abnormal Olfactory discrimination test Adult Karmon G et al. (2021)
Social behavior Social approach decreased Three-chamber social approach test Adult Karmon G et al. (2021)
Physiological parameters Intestinal microbiota composition abnormal Quantitative PCR (qRT-PCR) P84 Karmon G et al. (2021)
Physiological parameters Intestinal microbiota composition abnormal Quantitative PCR (qRT-PCR) P84 Karmon G et al. (2021)
Developmental profile Size/growth no change Body weight measurement P10 Karmon G et al. (2021)
Developmental profile Size/growth no change Body weight measurement Adult Karmon G et al. (2021)
Developmental profile Size/growth no change Body weight measurement Adult Karmon G et al. (2021)
Developmental profile Size/growth decreased Body weight measurement P10 Karmon G et al. (2021)
Developmental profile Mortality/lethality increased RNA Sequencing P1 Karmon G et al. (2021)
Developmental profile General characteristics no change General observations P1-21 Karmon G et al. (2021)
Developmental profile General characteristics abnormal General observations P1-21 Karmon G et al. (2021)
Learning & memory Object recognition memory: long-term recall decreased Novel object recognition test Adult Karmon G et al. (2021)
Molecular profile Targeted expression decreased RNA Sequencing P98 Karmon G et al. (2021)
Molecular profile Protein aggregation: neuronal increased Immunohistochemistry P70 Karmon G et al. (2021)
Molecular profile Protein aggregation: neuronal increased Immunohistochemistry P70 Karmon G et al. (2021)
Molecular profile Protein aggregation: neuronal no change Immunohistochemistry P70 Karmon G et al. (2021)
Molecular profile Differential gene expression no change RNA Sequencing P98 Karmon G et al. (2021)
Molecular profile Differential gene expression abnormal RNA Sequencing P98 Karmon G et al. (2021)

M_ADNP_4_KO_HT_NAP

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Pups were administered nap subcutaneously (25ug/1ml saline/day). twenty-one-day old mice were then administered nap intranasally (0.5μg/5ul vehicle/day)

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6NJ

Es cell line: C57BL/6N
Model Source: Karmon et al., 2021
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Righting response restored Righting reflex test P8-21 Karmon G et al. (2021)
Motor phenotype Motor coordination and balance sustained effect Wire hang test Adult Karmon G et al. (2021)
Motor phenotype Gait restored Running stride analysis P70 Karmon G et al. (2021)
Motor phenotype Gait ameliorated Running stride analysis P70 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Ultrasonic vocalization: isolation induced restored Spectographic analysis of vocalization recordings P8 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Ultrasonic vocalization: isolation induced no sustained effect Spectographic analysis of vocalization recordings P8 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: excitatory restored Immunohistochemistry P42 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Ear twitch reflex or preyer's reflex restored Preyer's Reflex test P7-15 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density restored Immunohistochemistry P42 Karmon G et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density restored Immunohistochemistry P42 Karmon G et al. (2021)
Repetitive behavior Self grooming restored Open field test Adult Karmon G et al. (2021)
Sensory Vision sustained effect Cliff avoidance test P1-14 Karmon G et al. (2021)
Sensory Startle response: acoustic stimulus restored Acoustic startle reflex test P7-18 Karmon G et al. (2021)
Sensory Sensory-evoked response: inhibition: visual stimulus restored In vivo local field potential (LFP) recordings P42 Karmon G et al. (2021)
Sensory Rooting reflex side effect Developmental milestone measurements P1-12 Karmon G et al. (2021)
Sensory Pain or nociception sustained effect Hot plate test Adult Karmon G et al. (2021)
Sensory Olfaction restored Olfactory discrimination test Adult Karmon G et al. (2021)
Physiological parameters Intestinal microbiota composition restored Quantitative PCR (qRT-PCR) P84 Karmon G et al. (2021)
Developmental profile Size/growth sustained effect Body weight measurement P10 Karmon G et al. (2021)
Developmental profile Eye development restored General observations P1-21 Karmon G et al. (2021)
Learning & memory Object recognition memory: long-term recall restored Novel object recognition test Adult Karmon G et al. (2021)
Molecular profile Targeted expression no sustained effect RNA Sequencing P98 Karmon G et al. (2021)
Molecular profile Protein aggregation: neuronal restored Immunohistochemistry P70 Karmon G et al. (2021)
Molecular profile Protein aggregation: neuronal restored Immunohistochemistry P70 Karmon G et al. (2021)
Molecular profile Differential gene expression no sustained effect RNA Sequencing P98 Karmon G et al. (2021)
Molecular profile Differential gene expression restored RNA Sequencing P98 Karmon G et al. (2021)
Other ADNP Rescue Models(6 Models)
M_ADNP_1_KO_HT 3 Genetic Pharmaceutical NAP
M_ADNP_1_KO_HT 2 Genetic Pharmaceutical SKIP
M_ADNP_2_KO_HT 2 Genetic Pharmaceutical NAP
M_ADNP_3_KO_HT_STRESS 1 Multifactorial Pharmaceutical PACAP
M_ADNP_3_KO_HT 1 Genetic Pharmaceutical NAP
M_ADNP_4_KO_HT 1 Genetic Pharmaceutical NAP
CNVs associated with ADNP(1 Models)
20q13.13 14 Deletion-Duplication 20  /  38
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