Phenotypes Associated with This Genotype

Genotype
MGI:5495922

• Allelic Composition: Nbea^{Tg(GH1)240BNec}/Nbea⁺
• Genetic Background: B6JRj.Cg-Nbea^{Tg(GH1)240BNec}

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

growth/size/body

decreased body weight ( J:197577 )

♀ • in 12 week old females

behavior/neurological

enhanced contextual conditioning behavior ( J:197577 )

♀ • in the contextual fear conditioning test, mutants show increased percentage of freezing when exposed to the same context after aversive footshock conditioning

♀ • however, anxiety-related exploration in the elevated maze is normal

abnormal spatial learning ( J:197577 )

♀ • during the acquisition trials of the Morris water maze, females travel an overall increased distance

♀ • in the first probe trial of the Morris water maze, females fail to show a preference for the target quadrant, indicating lack of spatial preference

♀ • in the second probe trial of the Morris water maze, females do develop a preference for the target quadrant but it is less pronounced than in wild-type mice

increased grooming behavior ( J:197577 )

♀ • increase in self-grooming behavior after snout is sprayed with water mist

decreased locomotor activity ( J:197577 )

♀ • females show diminished horizontal ambulatory activity during night-day transition

♀ • however, exploratory behavior is normal

abnormal social/conspecific interaction behavior ( J:197577 )

♀ • in the social exploration test, females show increased overall ambulatory activity in the forced presence of two stranger mice in the center of the arena

abnormal social investigation ( J:197577 )

♀ • the first session (the social preference trial) of the sociability preference for social novelty test, females spend equal time in both the empty chamber and the chamber containing an unfamiliar mouse unlike controls that prefer the chamber with the mouse

♀ • females spend less time interacting with the unfamiliar mouse than controls, with actual social interaction only during the first period after exposure to the new chambers

♀ • however, in the second session (preference for social novelty), females show preference for the unfamiliar mouse similarly to controls, indicating ability to distinguish a novel mouse from a previously encountered mouse

nervous system

increased brain weight ( J:197577 )

♀ • brain weight is increased relative to the body size in females at 12 weeks of age

enhanced long-term potentiation ( J:197577 )

♀ • enhancement of long-term potentiation in CA1 area of the hippocampus

♀ • however, females exhibit normal basic synaptic excitability, presynaptically mediated short-term plasticity, and sensorimotor gating

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:197577