Genetic Animal CNV Models / m

m

Model Species
Mus musculus
Associated Human CNVs
3q29
Reports
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Models / Rescue Models
0 / 0
Animal Chromosome Info

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Model Summary

C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion the human 3q29 CNV in the syntenic region on the mouse chromosome 16 show reduced body weight, impaired social interaction, cognitive function, acoustic startle, and amphetamine sensitivity, with some sexual dimorphism. Dlg1het mice did not exhibit the behavioral deficits seen in mice harboring the full 3q29 deletion.

Show all Construct Details Show all Phenotypic Profiles

M_Df(3)_1_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion of the human 3q29 CNV syntenic region on the mouse chromosome 16 between Chr.16:31,369,117 (GRCm38.p3) and Chr.16:32,634,414 (GRCm38.p3) [ genotype: B6.Del16^+/Bdh1-Tfrc].

Allele Type: Targeted
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: C57BL/6N
Model Source: Charles River; Emory Transgenic and Gene Targeting core
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle Locomotor activity in diurnal cycle No Change Novel cage test 4 months -
Communications - Not Reported - - -
Developmental profile Size/growth Decreased Body weight measurement 1 - 17 weeks -
Emotion Anxiety No Change Elevated plus maze test 4 months -
Emotion Anxiety No Change Open field test 4 months -
Emotion Fear response Increased Fear conditioning test 4 months -
Emotion Fear response No Change Fear conditioning test 4 months -
Homeostasis - Not Reported - - -
Immune response - Not Reported - - -
Learning & memory Cued or contextual fear conditioning: Memory of context No Change Fear conditioning test 4 months -
Learning & memory Cued or contextual fear conditioning: Memory of cue No Change Fear conditioning test 4 months -
Learning & memory Spatial learning No Change Morris water maze test 4 months -
Learning & memory Spatial reference memory No Change Morris water maze test 4 months -
Learning & memory Spatial reference memory Decreased Morris water maze test 4 months -
Maternal behavior - Not Reported - - -
Molecular profile Targeted expression Decreased Western blot Adult -
Molecular profile Targeted expression Decreased Quantitative PCR (qRT-PCR) Adult -
Motor phenotype Hyperactivity Decreased Novel cage test 4 months -
Motor phenotype Swimming ability Increased Morris water maze test 4 months -
Motor phenotype Swimming ability No Change Morris water maze test 4 months -
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development No Change Immunofluorescence staining E15.5 -
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No Change Histology Adult -
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Measurement of tissue weight Adult -
Neurophysiology - Not Reported - - -
Repetitive behavior Repetitive digging No Change Marble-burying test 4 months -
Seizure - Not Reported - - -
Sensory Sensorimotor gating No Change Prepulse inhibition 4 months -
Sensory Startle response: acoustic stimulus Increased Acoustic startle reflex test 4 months -
Sensory Startle response: acoustic stimulus No Change Acoustic startle reflex test 4 months -
Social behavior Social approach No Change Three-chamber social approach test 4 months -
Social behavior Social approach Decreased Three-chamber social approach test 4 months -
Human CNVs associated with m(1 CNV)
3q29 53 Deletion-Duplication 86  /  431
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