SETD5 SET domain containing 5
Model Species
Mus musculusGene Aliases
2900045N06Rik, C330007C20, C85544, mKIAA1757Reports
3Associated Human Genes
-Models / Rescue Models
-Rescue Model
-Model Summary
Setd5 happlodeficient mice show abnormal brain to body weight ratios, neural crest abnormalities, increased LTP, delayed USV, reduced cognitive flexibility, deficits in nest building behavior, and abnormalities in the regulation of gene transcription.
External Links
Reports related to SETD5 (3 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Additional | Setd5 is essential for mammalian development and the co-transcriptional regulation of histone acetylation | Osipovich AB et al. (2016) |
| 2 | Primary | Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. | Deliu E , et al. (2018) |
| 3 | Additional | Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice. | Moore SM , et al. (2019) |
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Show all Phenotypic Profiles
M_SETD5_1_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Setd5 heterozygous mice lacking exons 3 to 6 were generated by mating Setd5^tm1a(EUCOMM)Wtsi mice with Flip mice followed by CMV-Cre mice (CMVCre (B6.C-Tg(CMV-cre)1Cgn/J)
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6J
Es cell line: Not specified
Model Source: International Mouse Phenotyping Consortium, Jackson Laboratories
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Deliu E , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | Adult | Deliu E , et al. (2018) |
| Motor phenotype | General locomotor activity | No change | Open field test | Adult | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number | No change | Immunohistochemistry | E12.5 | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal differentiation | Abnormal | NA | E9.5 | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Glial morphology | No change | Immunohistochemistry | E12.5 | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cortical thickness | No change | Immunohistochemistry | Adult | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cortical lamination | No change | Immunohistochemistry | Adult | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cell proliferation: neural precursors | No change | Immunohistochemistry | E12.5 | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | No change | Measurement of tissue weight | P1, 1 month | Deliu E , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Histology | Adult | Deliu E , et al. (2018) |
| Neurophysiology | Synaptic plasticity: hippocampal ltp | Increased | Field potential recordings | Adult | Deliu E , et al. (2018) |
| Neurophysiology | Apoptosis: brain cells | No change | Immunohistochemistry | E12.5 | Deliu E , et al. (2018) |
| Repetitive behavior | Repetitive nose pokes | Increased | Operant conditioning paradigm | Adult | Deliu E , et al. (2018) |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | Adult | Deliu E , et al. (2018) |
| Repetitive behavior | Circling | No change | Open field test | Adult | Deliu E , et al. (2018) |
| Seizure | NA | Not reported | NA | NA | Deliu E , et al. (2018) |
| Sensory | NA | Not reported | NA | NA | Deliu E , et al. (2018) |
| Social behavior | Social memory | No change | Three-chamber social approach test | Adult | Deliu E , et al. (2018) |
| Social behavior | Social approach | No change | Three-chamber social approach test | Adult | Deliu E , et al. (2018) |
| Social behavior | Nest building behavior | No change | Nest building assay | Adult | Deliu E , et al. (2018) |
| Social behavior | Nest building behavior | Decreased | Nest building assay | Adult | Deliu E , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Deliu E , et al. (2018) |
| Communications | Ultrasonic vocalization: isolation induced | No change | Monitoring ultrasonic vocalizations | P2, p4, p6, p8 | Deliu E , et al. (2018) |
| Communications | Ultrasonic vocalization: isolation induced | Increased | Monitoring ultrasonic vocalizations | P10, p12 | Deliu E , et al. (2018) |
| Communications | Ultrasonic vocalization: isolation induced | Decreased | Monitoring ultrasonic vocalizations | P2-12 | Deliu E , et al. (2018) |
| Developmental profile | Skeletal development: craniofacial | Abnormal | Skeletal x-rays | Adult | Deliu E , et al. (2018) |
| Developmental profile | Skeletal development | Abnormal | Skeletal x-rays | Adult | Deliu E , et al. (2018) |
| Developmental profile | Size/growth | Decreased | General observations | P1, 1 month | Deliu E , et al. (2018) |
| Developmental profile | Renal morphology | No change | Measurement of tissue weight | Adult | Deliu E , et al. (2018) |
| Developmental profile | Mortality/lethality | Increased | Kaplan-meier survival curve | 0-10 weeks | Deliu E , et al. (2018) |
| Developmental profile | Eye development: eye size | Decreased | General observations | Adult | Deliu E , et al. (2018) |
| Developmental profile | Eye development | Abnormal | General observations | Adult | Deliu E , et al. (2018) |
| Developmental profile | Coat color | Abnormal | General observations | Adult | Deliu E , et al. (2018) |
| Emotion | Anxiety | No change | Open field test | Adult | Deliu E , et al. (2018) |
| Emotion | Anxiety | No change | Elevated plus maze test | Adult | Deliu E , et al. (2018) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | Adult | Deliu E , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Deliu E , et al. (2018) |
| Learning & memory | Spatial working memory | Increased | Object-place recognition test | Adult | Deliu E , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Increased | Fear conditioning test | Adult | Deliu E , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: extinction | Decreased | Fear conditioning test | Adult | Deliu E , et al. (2018) |
| Learning & memory | Cognitive flexibility | Decreased | Operant conditioning paradigm | Adult | Deliu E , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Deliu E , et al. (2018) |
| Molecular profile | Targeted expression | Decreased | Semi-quantitative pcr (qrt-pcr) | E16.5, p1, 3 weeks, adult | Deliu E , et al. (2018) |
| Molecular profile | Signaling: wnt pathway | Abnormal | Rna sequencing | E9.5 | Deliu E , et al. (2018) |
| Molecular profile | Gene expression | Abnormal | Rna sequencing | Adult | Deliu E , et al. (2018) |
| Molecular profile | Gene expression | Abnormal | Rna sequencing | E9.5 | Deliu E , et al. (2018) |
| Molecular profile | Enzyme activity | No change | Enzyme assay | Adult | Deliu E , et al. (2018) |
| Molecular profile | Chromatin modification: histone acetylation | Increased | Western blot | Adult | Deliu E , et al. (2018) |
| Molecular profile | Chromatin modification | No change | Western blot | Adult | Deliu E , et al. (2018) |
M_SETD5_2_KI_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Mice with GFP coding sequences inserted in the first exon of Setd5, upstream of the translation initiation sequence, using an RMCE-based strategy resulting in disruption of full-length SetD5 mRNA and protein expression and an effective SetD5^GFP null allele. This is a loss of function knockin.
Allele Type: LOF Knockin
Strain of Origin: C57/Bl6
Genetic Background: C57/Bl6
Es cell line: Not specified
Model Source: PMID 27864380
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 10 weeks | Moore SM , et al. (2019) |
| Motor phenotype | Motor coordination and balance | No change | Ledge test | 10 weeks | Moore SM , et al. (2019) |
| Motor phenotype | Hunched posture | No change | General observations | 10 weeks | Moore SM , et al. (2019) |
| Motor phenotype | Grip strength | No change | Grip strength test | 10 weeks | Moore SM , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Increased | Open field test | Adult | Moore SM , et al. (2019) |
| Motor phenotype | Gait | No change | Gait | 10 weeks | Moore SM , et al. (2019) |
| Motor phenotype | Clasping reflex | No change | General observations | 10 weeks | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number | No change | Fluorescence microscopy | P1, p10 | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Morphology of the amygdala | No change | Magnetic resonance imaging (mri) | Adult | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Hippocampal morphology | No change | Magnetic resonance imaging (mri) | Adult | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cortical thickness | No change | Magnetic resonance imaging (mri) | Adult | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cortical lamination | No change | Fluorescence microscopy | P1, p10 | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cortical lamination | Decreased | Fluorescence microscopy | P1, p10 | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | No change | Magnetic resonance imaging (mri) | Adult | Moore SM , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | Abnormal | Magnetic resonance imaging (mri) | Adult | Moore SM , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Repetitive behavior | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Seizure | Seizures | No change | Observation of chemically induced seizures | Adult | Moore SM , et al. (2019) |
| Seizure | Seizure threshold | No change | Electroencephalogram (eeg) | Adult | Moore SM , et al. (2019) |
| Sensory | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | Adult | Moore SM , et al. (2019) |
| Social behavior | Social approach | No change | Three-chamber social approach test | Adult | Moore SM , et al. (2019) |
| Social behavior | Nest building behavior | Decreased | Nest building assay | Adult | Moore SM , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Developmental profile | Size/growth | No change | Body weight measurement | 10 weeks | Moore SM , et al. (2019) |
| Emotion | Anxiety | Increased | Elevated plus maze test | Adult | Moore SM , et al. (2019) |
| Emotion | Anxiety | Increased | Open field test | Adult | Moore SM , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Learning & memory | Spatial reference memory | Decreased | Barnes maze test | Adult | Moore SM , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Moore SM , et al. (2019) |
| Molecular profile | Gene expression | Increased | Rna sequencing | E18.5 | Moore SM , et al. (2019) |
| Molecular profile | Gene expression | Decreased | Rna sequencing | E18.5 | Moore SM , et al. (2019) |
M_SETD5_3_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
An exchange vector for performing recombinase-mediated cassette exchange was made beginning with pRosa26.Ex1 and inserting a GFP (Emerald)-SV40 poly(A) cassette between SmaI sites located in the first exon of Setd5 resulting in disruption of Setd5 at exon 1.
Allele Type: knockout
Strain of Origin: -
Genetic Background: CD-1
Es cell line: Not specified
Model Source: PMID 27864380
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Developmental profile | Size/growth: embryonic | decreased | Macroscopic analysis | E 10.5 | Osipovich AB et al. (2016) |
| Developmental profile | Mortality/lethality: embryonic | increased | General observations | E 10.5 | Osipovich AB et al. (2016) |
| Developmental profile | Embryonic morphology | abnormal | Macroscopic analysis | E 8.5-9.5 | Osipovich AB et al. (2016) |
| Developmental profile | Cardiovascular development and function: embryonic | decreased | Immunostaining | E 9.5 | Osipovich AB et al. (2016) |
| Developmental profile | Cardiovascular development and function: embryonic | abnormal | Macroscopic analysis | E 9.5 | Osipovich AB et al. (2016) |
| Molecular profile | Targeted expression | decreased | Semi-quantitative PCR (qRT-PCR) | E 9.5 | Osipovich AB et al. (2016) |
M_SETD5_3_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
An exchange vector for performing recombinase-mediated cassette exchange was made beginning with pRosa26.Ex1 and inserting a GFP (Emerald)-SV40 poly(A) cassette between SmaI sites located in the first exon of Setd5 resulting in disruption of Setd5 at exon 1.
Allele Type: knockout
Strain of Origin: -
Genetic Background: CD-1
Es cell line: Not specified
Model Source: PMID 27864380
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Molecular profile | Targeted expression | decreased | Semi-quantitative PCR (qRT-PCR) | E 9.5 | Osipovich AB et al. (2016) |
CNVs associated with SETD5(1 Models)
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| 3p25.3 | 20 | Deletion-Duplication | 32 / 90 |