Genetic Animal CNV Models / m

m

Model Species
Mus musculus
Associated Human CNVs
3q29
Reports
1
Models / Rescue Models
0 / 0
Animal Chromosome Info

-

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.

External Links
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Reports related to m (1 Reports)
# Type Title Author, Year
1 Primary Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion Rutkowski TP et al. (2021)
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 Rutkowski TP et al. (2021)
Communications - Not reported - - Rutkowski TP et al. (2021)
Developmental profile Size/growth Decreased Body weight measurement 1 - 17 weeks Rutkowski TP et al. (2021)
Emotion Anxiety No change Elevated plus maze test 4 months Rutkowski TP et al. (2021)
Emotion Anxiety No change Open field test 4 months Rutkowski TP et al. (2021)
Emotion Fear response Increased Fear conditioning test 4 months Rutkowski TP et al. (2021)
Emotion Fear response No change Fear conditioning test 4 months Rutkowski TP et al. (2021)
Immune response - Not reported - - Rutkowski TP et al. (2021)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test 4 months Rutkowski TP et al. (2021)
Learning & memory Cued or contextual fear conditioning: memory of cue No change Fear conditioning test 4 months Rutkowski TP et al. (2021)
Learning & memory Spatial learning No change Morris water maze test 4 months Rutkowski TP et al. (2021)
Learning & memory Spatial reference memory No change Morris water maze test 4 months Rutkowski TP et al. (2021)
Learning & memory Spatial reference memory Decreased Morris water maze test 4 months Rutkowski TP et al. (2021)
Maternal behavior - Not reported - - Rutkowski TP et al. (2021)
Molecular profile Targeted expression Decreased Western blot Adult Rutkowski TP et al. (2021)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) Adult Rutkowski TP et al. (2021)
Motor phenotype Hyperactivity Decreased Novel cage test 4 months Rutkowski TP et al. (2021)
Motor phenotype Swimming ability Increased Morris water maze test 4 months Rutkowski TP et al. (2021)
Motor phenotype Swimming ability No change Morris water maze test 4 months Rutkowski TP et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development No change Immunofluorescence staining E15.5 Rutkowski TP et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No change Histology Adult Rutkowski TP et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Measurement of tissue weight Adult Rutkowski TP et al. (2021)
Neurophysiology - Not reported - - Rutkowski TP et al. (2021)
Physiological parameters - Not reported - - Rutkowski TP et al. (2021)
Repetitive behavior Repetitive digging No change Marble-burying test 4 months Rutkowski TP et al. (2021)
Seizure - Not reported - - Rutkowski TP et al. (2021)
Sensory Sensorimotor gating No change Prepulse inhibition 4 months Rutkowski TP et al. (2021)
Sensory Startle response: acoustic stimulus Increased Acoustic startle reflex test 4 months Rutkowski TP et al. (2021)
Sensory Startle response: acoustic stimulus No change Acoustic startle reflex test 4 months Rutkowski TP et al. (2021)
Social behavior Social approach No change Three-chamber social approach test 4 months Rutkowski TP et al. (2021)
Social behavior Social approach Decreased Three-chamber social approach test 4 months Rutkowski TP et al. (2021)
Human CNVs associated with m(1 CNV)
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3q29 62 Deletion-Duplication 97  /  449
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