Genetic Mouse Models / SETD5

SETD5 SET domain containing 5

Model Species
Mus musculus
Gene Aliases
2900045N06Rik, C330007C20, C85544, mKIAA1757
Reports
2
Associated Human Genes
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Models / Rescue Models
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Rescue Model
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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.

Reports related to SETD5 (2 Reports)
# Type Title Author, Year
1 Primary Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Deliu E , et al. (2018)
2 Additional Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice. Moore SM , et al. (2019)
Show all Construct Details 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
Physiological parameters NA Not reported NA NA Deliu E , et al. (2018)
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)
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
Physiological parameters NA Not reported NA NA Moore SM , et al. (2019)
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)
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)
CNVs associated with SETD5(1 Models)
3p25.3 20 Deletion-Duplication 32  /  90
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