Phenotypes associated with this allele

• Allele Symbol: Ncstn^tm1.1Sud
• Allele Name: targeted mutation 1.1, Thomas C Sudhof
• Allele ID: MGI:3796837
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ncstn^tm1.1Sud/Ncstn^tm1.1Sud Tg(Camk2a-cre)1Shn/0	B6.Cg-Ncstn^tm1.1Sud Tg(Camk2a-cre)1Shn	MGI:3848927
cn2	Ncstn^tm1.1Sud/Ncstn^tm1.1Sud Olig1^tm1(cre)Rth/Olig1^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5800496

Genotype
MGI:3848927

cn1

• Allelic Composition: Ncstn^tm1.1Sud/Ncstn^tm1.1Sud; Tg(Camk2a-cre)1Shn/0
• Genetic Background: B6.Cg-Ncstn^tm1.1Sud Tg(Camk2a-cre)1Shn

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

nervous system

nervous system phenotype ( J:149506 )

N • brain morphology is normal at 2 months

increased neuron apoptosis ( J:149506 )

• progressive as early as 2 months

loss of cortex neurons ( J:149506 )

• at 6 and 9 months, mice exhibit cortical atrophy with loss of cortical neurons unlike wild-type mice

thin cerebral cortex ( J:149506 )

• at 6 and 9 months, neocortical volume is decreased compared to in wild-type mice

gliosis ( J:149506 )

• progressive as early as 2 months

astrocytosis ( J:149506 )

decreased CNS synapse formation ( J:149506 )

• age-dependent

abnormal dendrite morphology ( J:149506 )

• mice exhibit age-dependent dendrite loss unlike wild-type mice

behavior/neurological

behavior/neurological phenotype ( J:149506 )

N • mice exhibit normal swimming abilities, activity levels, and coordination

impaired contextual conditioning behavior ( J:149506 )

• long term-term associative fear memory in a contextual conditioning assay is impaired in an age-dependent manner compared to in wild-type mice

abnormal spatial learning ( J:149506 )

• in a Morris water maze, mice exhibit age-dependent impaired spatial learning compared with wild-type mice

impaired spatial working memory ( J:149506 )

• in a Morris water maze with hidden platform, mice exhibit age-dependent impaired spatial memory compared with wild-type mice

cellular

increased neuron apoptosis ( J:149506 )

• progressive as early as 2 months

Genotype
MGI:5800496

cn2

• Allelic Composition: Ncstn^tm1.1Sud/Ncstn^tm1.1Sud; Olig1^tm1(cre)Rth/Olig1⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

behavior/neurological

increased exploration in new environment ( J:234705 )

• mice exhibit increased exploratory behavior in both the open field and elevated plus maze

increased grooming behavior ( J:234705 )

• compulsive grooming in symptomatic mice

• presymptomatic mice show a trend towards excessive grooming

hyperactivity ( J:234705 )

• mice are hyperactive in both the open field and elevated plus maze

• treatment with an acute intraperitoneal injection of a low dose of haloperidol reverses the hyperactivity but does not alter the thigmotaxis in the open field maze

increased stereotypic behavior ( J:234705 )

• mice exhibit trichotillomania

integument

abnormal coat appearance ( J:234705 )

• aged mice exhibit extensive bald patches localized to the nape of the neck and upper back

skin lesions ( J:234705 )

• bald patches progress to full lesions with 100% penetrance by 9 months of age

• lesions are self-inflicted and not caused by social grooming

• lesions are not responsive to topical antibiotic, anti-inflammatory, or antihistamine treatment and mice do not exhibit a difference in response to histamine injection compared to controls

nervous system

decreased myelin sheath thickness ( J:234705 )

• thinner myelin sheaths in the optic nerve, indicating hypomyelination in the optic nerve

• however, myelination in the spinal cord and sciatic nerve is normal

dysmyelination ( J:234705 )

• hypomyelination in the optic nerve

decreased prepulse inhibition ( J:234705 )

• mice are less sensitive to the prepulse and thus show reduced inhibition

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
schizophrenia		DOID:5419	OMIM:181500	J:234705