Phenotypes associated with this allele

• Allele Symbol: Zic2^tm1Jaru
• Allele Name: targeted mutation 1, Jun Aruga
• Allele ID: MGI:2156825
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zic2^tm1Jaru/Zic2^tm1Jaru	involves: 129S4/SvJae * C57BL/6	MGI:2653209
ht2	Zic2^tm1Jaru/Zic2^+	B6.129S4-Zic2^tm1Jaru	MGI:2653210
ht3	Zic2^tm1Jaru/Zic2^+	involves: 129S4/SvJae * C57BL/6J	MGI:5085985

Genotype
MGI:2653209

hm1

• Allelic Composition: Zic2^tm1Jaru/Zic2^tm1Jaru
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

Neural tube defects found in Zic2^tm1Jaru/Zic2^tm1Jaru mice

mortality/aging

postnatal lethality, complete penetrance ( J:60644 )

• die soon after birth

behavior/neurological

hindlimb paralysis ( J:60644 )

• hindlimbs are paralyzed and cross each other

nervous system

abnormal cerebral cortex morphology ( J:60644 )

• the cerebral cortex of both hemispheres is fused at the dorsal midline

• hypoplastic cerebral cortex

abnormal olfactory bulb morphology ( J:60644 )

• olfactory bulb is hypoplastic

abnormal nervous system development ( J:60644 )

abnormal neural plate morphology ( J:60644 )

• differentiation of the dorsal neural plate is delayed as indicated by marker analysis

abnormal neural tube morphology ( J:60644 )

• abnormal folding of the posterior neural tube is seen at E9.5

spina bifida ( J:60644 )

• no closure of the lumbar spinal cord is seen in all mutants at E9.5-E17.5

• the affected lumbosacral region lacks skin (myeloschisis)

abnormal roof plate morphology ( J:60644 )

• telencephalic roof plate is missing at E10.5

abnormal brain development ( J:60644 )

abnormal forebrain development ( J:60644 )

• structures derived from the dorsal forebrain are missing or hypoplastic and contracted

• apoptosis that normally occurs in the most dorsal region of the telencephalic roof plate does not occur in mutants at E10.5, suggesting that differentiation of the dorsal forebrain is impaired

abnormal telencephalon development ( J:60644 )

• mitotic cells are not decreased in the dorsal telencephalon at in E9.5 as they are in wild-type

holoprosencephaly ( J:60644 )

anencephaly ( J:60644 )

• seen in a few E10.5-P0 mutants

exencephaly ( J:60644 )

• seen in a few E10.5-P0 mutants

abnormal dorsal root ganglion morphology ( J:60644 )

• dorsal root ganglion is impaired in the thoracic region at E15.5

abnormal spinal cord dorsal horn morphology ( J:60644 )

• regions of the dorsal horn are reduced

skeleton

abnormal limb bone morphology ( J:60644 )

fused carpal bones ( J:60644 )

• abnormal fusion is seen in adjacent carpal bones at E17.5

fused tarsal bones ( J:60644 )

• abnormal fusion is seen in adjacent tarsal bones at E17.5

fused metacarpal bones ( J:60644 )

• the forth and fifth metacarpal bones are laterally fused

fused metatarsal bones ( J:60644 )

• the forth and fifth metatarsal bones are laterally fused

abnormal vertebral arch morphology ( J:60644 )

• the vertebral arches are widely open at E15.5

• vertebral arches are malformed and not fused at the midline in all mutants at E17.5

• appearance of vertebral arches along the anterior-to-posterior axis is irregular

fusion of vertebral arches ( J:60644 )

• abnormal fusions between the rostrocaudally adjacent arches

limbs/digits/tail

abnormal autopod rotation ( J:60644 )

• feet are abnormally pointed and plantar-flexed (pes equines)

abnormal limb bone morphology ( J:60644 )

fused carpal bones ( J:60644 )

• abnormal fusion is seen in adjacent carpal bones at E17.5

fused tarsal bones ( J:60644 )

• abnormal fusion is seen in adjacent tarsal bones at E17.5

fused metacarpal bones ( J:60644 )

• the forth and fifth metacarpal bones are laterally fused

fused metatarsal bones ( J:60644 )

• the forth and fifth metatarsal bones are laterally fused

curly tail ( J:60644 )

embryo

abnormal neural fold formation ( J:60644 )

• neurulation process is delayed as indicated by marker analysis

abnormal neural plate morphology ( J:60644 )

• differentiation of the dorsal neural plate is delayed as indicated by marker analysis

abnormal neural tube morphology ( J:60644 )

• abnormal folding of the posterior neural tube is seen at E9.5

spina bifida ( J:60644 )

• no closure of the lumbar spinal cord is seen in all mutants at E9.5-E17.5

• the affected lumbosacral region lacks skin (myeloschisis)

abnormal roof plate morphology ( J:60644 )

• telencephalic roof plate is missing at E10.5

growth/size/body

microcephaly ( J:60644 )

• seen in 18 of 18 E17.5 mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 5		DOID:0110878	OMIM:609637	J:60644

Genotype
MGI:2653210

ht2

• Allelic Composition: Zic2^tm1Jaru/Zic2⁺
• Genetic Background: B6.129S4-Zic2^tm1Jaru

behavior/neurological

behavior/neurological phenotype ( J:72342 )

N • mutants exhibit normal spontaneous locomotor activity, motor coordination ability, neuromuscular strength, motivation and emotional behavior

increased startle reflex ( J:72342 )

• acoustic startle response is larger, with an amplitude twice that of wild-type

nervous system

decreased prepulse inhibition ( J:72342 )

• the prepulse inhibition level is attenuated both with the 70-dB and 80-dB prepulses

Genotype
MGI:5085985

ht3

• Allelic Composition: Zic2^tm1Jaru/Zic2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

behavior/neurological

behavior/neurological phenotype ( J:174352 )

N • mice exhibit normal responses in the light-dark box test, marble burying test, elevated plus maze test, forced swimming test, grip strength test, wire hanging test, footprint test, and rotarod test

impaired contextual conditioning behavior ( J:174352 )

impaired cued conditioning behavior ( J:174352 )

• slight

abnormal spatial learning ( J:174352 )

• in a Morris water maze, mice exhibit increased latency to training and reverse compared with wild-type mice

abnormal spatial working memory ( J:174352 )

• in a Y maze, mice exhibit an increase in number of entries and a decrease in alternation compared with wild-type mice

decreased aggression towards mice ( J:174352 )

• mice are often the losers in a social dominance test unlike wild-type mice

decreased locomotor activity ( J:174352 )

• in a home cage

hyperactivity ( J:174352 )

• in an open field test

nervous system

decreased brain size ( J:174352 )

enlarged lateral ventricles ( J:174352 )

• most notable in the anterior horn region

• with reduction in the mass of the septum

abnormal amygdala morphology ( J:174352 )

• in 6 of 8 mice, the medial protrusion of the amygdala in the coronal sections is blunted compared to in wild-type mice

abnormal cerebral hemisphere morphology ( J:174352 )

• the position and shape of the medial structure rostral to the hippocampus were narrower than in wild-type mice

decreased corpus callosum size ( J:174352 )

• slight thinner than in wild-type mice

thin cerebral cortex ( J:174352 )

• slight

decreased neuron number ( J:174352 )

• the number of cholinergic neurons are decreased in the basal forebrain compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
schizophrenia		DOID:5419	OMIM:181500	J:174352