Phenotypes associated with this allele

• Allele Symbol: Pogz^em1Tnkw
• Allele Name: endonuclease-mediated mutation 1, Takanobu Nakazawa
• Allele ID: MGI:7615290
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pogz^em1Tnkw/Pogz^em1Tnkw	involves: C57BL/6NJcl	MGI:7616249
ht2	Pogz^em1Tnkw/Pogz^+	involves: C57BL/6NJcl	MGI:7616244

Genotype
MGI:7616249

hm1

• Allelic Composition: Pogz^em1Tnkw/Pogz^em1Tnkw
• Genetic Background: involves: C57BL/6NJcl

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

cardiovascular system

ventricular septal defect ( J:286398 )

• in E15.5 embryos

mortality/aging

prenatal lethality, complete penetrance ( J:286398 )

• embryos succumb to VSD (ventricular septal defect)

Genotype
MGI:7616244

ht2

• Allelic Composition: Pogz^em1Tnkw/Pogz⁺
• Genetic Background: involves: C57BL/6NJcl

behavior/neurological

behavior/neurological phenotype ( J:286398 )

N • normal behavior in elevated Y maze test and light/dark transition tests

abnormal behavior ( J:286398 )

• less time spent interacting (allogrooming, chasing, playing, sniffing) with other mice in juveniles

abnormal behavioral response to light ( J:286398 )

• increased light phase home cage activity to total home cage activity ratio

abnormal associative learning ( J:286398 )

• lower % freezing time in contextual fear conditioning test

• normal auditory cued fear conditioning behavior

impaired contextual conditioning behavior ( J:286398 )

• lower % freezing time

decreased thigmotaxis ( J:286398 )

• more time spent in central area in open field test

• normal total locomotor activity

abnormal response to novel object ( J:286398 )

• less time spent with novel object

abnormal response to social novelty ( J:286398 )

• less time spent with novel mice

increased grooming behavior ( J:286398 )

• increased time spent self-grooming

• less time spent allogrooming in juveniles

abnormal vocalization ( J:286398 )

• altered isolation-induced ultrasonic vocalization (USV) call patterns emitted by mouse pups separated from their mothers

nervous system

decreased brain size ( J:286398 )

• at age 10 weeks

decreased brain weight ( J:286398 )

• at age 10 weeks

decreased forebrain size ( J:286398 )

• at age 10 weeks

abnormal somatosensory cortex morphology ( J:286398 )

• decreased upper layer and increased lower layer SATB2+ excitatory neuron density in cortical layer II/III of E18.5 embryos

• decreased upper layer and increased lower layer CUX1+ excitatory neuron density in cortical layer II/III at age 10 weeks

increased dendritic spine density ( J:286398 )

• in anterior cingulate cortex (ACC) layer II/II pyramidal neurons at age 10 weeks

increased excitatory postsynaptic current frequency ( J:286398 )

• miniature excitatory postsynaptic current (mEPSC) frequency in anterior cingulate cortex (ACC) layer II/II pyramidal neurons at age 10 weeks

embryo

embryo phenotype ( J:286398 )

N • mice born at expected Mendelian ratios

growth/size/body

decreased birth body size ( J:286398 )

decreased body size ( J:286398 )

• at age 10 weeks

decreased body weight ( J:286398 )

• at all ages up to 12 weeks

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:286398 )

N • normal cochlea morphology

muscle

muscle phenotype ( J:286398 )

N • no diaphragmatic hernia

respiratory system

respiratory system phenotype ( J:286398 )

N • normal trachea morphology

skeleton

skeleton phenotype ( J:286398 )

N • normal skull morphology

vision/eye

vision/eye phenotype ( J:286398 )

N • normal eye morphology

digestive/alimentary system

digestive/alimentary phenotype ( J:286398 )

N • normal stomach, duodenum, ileum, cecum and colon morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:286398