Phenotypes Associated with This Genotype

Genotype
MGI:5295223

• Allelic Composition: Dlg4^tm2.1Grnt/Dlg4^tm2.1Grnt
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal learning/memory/conditioning ( J:175436 )

• on a T-maze spontaneous alternation test, mutants alternate less than wild-type mice, indicating repetitive exploration of the same arm

abnormal anxiety-related response ( J:175436 )

• mutants spend less time and make fewer entries into the open arms of the elevated plus-maze than wild-type mice when started facing a closed arm

• a separate cohort of mutants spent more time and made more entries into the plus-maze open arms than wild-type mice when started facing an open arm

decreased anxiety-related response ( J:175436 )

• mutants bury fewer marbles than wild-type mice in both the novel and homecage

increased response to stress-induced hyperthermia ( J:175436 )

• on a non-exploration-based assay for anxiety-related behavior and stress reactivity, mutants show greater stress-induced hyperthermia than wild-type mice

increased grooming behavior ( J:175436 )

• mutants groom more than wild-type mice in the homecage but not in the novel cage

impaired balance ( J:175436 )

• mutants make more foot-slips than wild-type mice on a balance beam test, but only on the narrowest beam

impaired coordination ( J:175436 )

• on the accelerating rotarod, mutants have lower latencies to fall than wild-type mice on all trials

decreased grip strength ( J:175436 )

• mutants have lower inverted hang latency than wild-type mice on an inverted cage test

decreased locomotor activity ( J:175436 )

• in the open-field test, mutants travel less and avoid the center more than wild-type mice

• following MPEP treatment, mutants exhibit similar novel open-field locomotion as vehicle-treated wild-type mice

abnormal social investigation ( J:175436 )

• in a choice-based social approach test, mutants exhibit greater investigation of the mouse than wild-type mice

• following treatment with the anxiolytic drug, 2-methyl-6-phenylethynylpyridine (MPEP), mutants show relatively more social and novel-social behavior than controls

decreased vocalization ( J:175436 )

• mutants exhibit longer latency to first vocalization and make fewer vocalizations overall than wild-type mice

homeostasis/metabolism

increased response to stress-induced hyperthermia ( J:175436 )

• on a non-exploration-based assay for anxiety-related behavior and stress reactivity, mutants show greater stress-induced hyperthermia than wild-type mice

increased circulating corticosterone level ( J:175436 )

• mutants exhibit greater stress-induced serum corticosterone response to restraint stress than wild-type mice

nervous system

nervous system phenotype ( J:175436 )

N • mutants exhibit no obvious differences in cerebellar morphology

abnormal dendritic spine morphology ( J:175436 )

• mutants exhibit larger spine headwidth than wild-type mice in relatively long dendritic spines in basolateral amygdala neurons, but not in anterior cingulated cortex neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:175436
Williams-Beuren syndrome		DOID:1928	OMIM:194050	J:175436