Phenotypes associated with this allele

• Allele Symbol: Nbea^{Tg(GH1)240BNec}
• Allele Name: transgene insertion 240B, Nancy E Cooke
• Allele ID: MGI:4452356
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nbea^Tg(GH1)240BNec/Nbea^Tg(GH1)240BNec	involves: C57BL/6 * SJL	MGI:4452361
ht2	Nbea^Tg(GH1)240BNec/Nbea^+	B6JRj.Cg-Nbea^Tg(GH1)240BNec	MGI:5495922
ht3	Nbea^Tg(GH1)240BNec/Nbea^+	involves: C57BL/6 * SJL	MGI:4452360

Genotype
MGI:4452361

hm1

• Allelic Composition: Nbea^{Tg(GH1)240BNec}/Nbea^{Tg(GH1)240BNec}
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

neonatal lethality, complete penetrance ( J:128767 )

nervous system

nervous system phenotype ( J:128767 )

N • mice exhibit normal central nervous system morphology, neuromuscular synapses, transmission of action potentials along axons in muscle regions, and spontaneous neurotransmitter release

abnormal miniature endplate potential ( J:128767 )

• the phrenic nerve fails to exhibit miniature endplate potential (mepp) when stimulated at 0.5-1 Hz unlike similarly treated wild-type nerves

behavior/neurological

unresponsive to tactile stimuli ( J:128767 )

• at birth

no spontaneous movement ( J:128767 )

• at birth

homeostasis/metabolism

cyanosis ( J:128767 )

• shortly after birth

adipose tissue

abnormal interscapular fat pad morphology ( J:128767 )

• at birth, mice exhibit an enlargement of the intrescapular brown adipose fat depot compared to wild-type mice

muscle

impaired muscle contractility ( J:128767 )

• phrenic nerve stimulation failed to produce twitch or tetanic muscle contractions unlike in wild-type mice

Genotype
MGI:5495922

ht2

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

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

Genotype
MGI:4452360

ht3

• Allelic Composition: Nbea^{Tg(GH1)240BNec}/Nbea⁺
• Genetic Background: involves: C57BL/6 * SJL

endocrine/exocrine glands

abnormal pituitary gland development ( J:128767 )

• mice exhibit small body size compared with wild-type mice due to selective inhibition of postnatal pituitary development

growth/size/body

decreased body size ( J:128767 )

nervous system

abnormal pituitary gland development ( J:128767 )

• mice exhibit small body size compared with wild-type mice due to selective inhibition of postnatal pituitary development