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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Zic2tm1Jaru
targeted mutation 1, Jun Aruga
MGI:2156825
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Zic2tm1Jaru/Zic2tm1Jaru involves: 129S4/SvJae * C57BL/6 MGI:2653209
ht2
Zic2tm1Jaru/Zic2+ B6.129S4-Zic2tm1Jaru MGI:2653210
ht3
Zic2tm1Jaru/Zic2+ involves: 129S4/SvJae * C57BL/6J MGI:5085985


Genotype
MGI:2653209
hm1
Allelic
Composition
Zic2tm1Jaru/Zic2tm1Jaru
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic2tm1Jaru mutation (1 available); any Zic2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neural tube defects found in Zic2tm1Jaru/Zic2tm1Jaru mice

mortality/aging

behavior/neurological
• hindlimbs are paralyzed and cross each other

nervous system
• the cerebral cortex of both hemispheres is fused at the dorsal midline
• hypoplastic cerebral cortex
• olfactory bulb is hypoplastic
• differentiation of the dorsal neural plate is delayed as indicated by marker analysis
• abnormal folding of the posterior neural tube is seen at E9.5
• no closure of the lumbar spinal cord is seen in all mutants at E9.5-E17.5
• the affected lumbosacral region lacks skin (myeloschisis)
• telencephalic roof plate is missing at E10.5
• 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
• mitotic cells are not decreased in the dorsal telencephalon at in E9.5 as they are in wild-type
• seen in a few E10.5-P0 mutants
• seen in a few E10.5-P0 mutants
• dorsal root ganglion is impaired in the thoracic region at E15.5
• regions of the dorsal horn are reduced

skeleton
• abnormal fusion is seen in adjacent tarsal bones at E17.5
• abnormal fusion is seen in adjacent carpal bones at E17.5
• the forth and fifth metacarpal bones are laterally fused
• the forth and fifth metatarsal bones are laterally fused
• 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
• abnormal fusions between the rostrocaudally adjacent arches

limbs/digits/tail
• feet are abnormally pointed and plantar-flexed (pes equines)
• abnormal fusion is seen in adjacent tarsal bones at E17.5
• abnormal fusion is seen in adjacent carpal bones at E17.5
• the forth and fifth metacarpal bones are laterally fused
• the forth and fifth metatarsal bones are laterally fused

embryo
• neurulation process is delayed as indicated by marker analysis
• differentiation of the dorsal neural plate is delayed as indicated by marker analysis
• abnormal folding of the posterior neural tube is seen at E9.5
• no closure of the lumbar spinal cord is seen in all mutants at E9.5-E17.5
• the affected lumbosacral region lacks skin (myeloschisis)
• telencephalic roof plate is missing at E10.5

growth/size/body
• 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
Zic2tm1Jaru/Zic2+
Genetic
Background
B6.129S4-Zic2tm1Jaru
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic2tm1Jaru mutation (1 available); any Zic2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mutants exhibit normal spontaneous locomotor activity, motor coordination ability, neuromuscular strength, motivation and emotional behavior
• acoustic startle response is larger, with an amplitude twice that of wild-type

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




Genotype
MGI:5085985
ht3
Allelic
Composition
Zic2tm1Jaru/Zic2+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic2tm1Jaru mutation (1 available); any Zic2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
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
• in a Morris water maze, mice exhibit increased latency to training and reverse compared with wild-type mice
• in a Y maze, mice exhibit an increase in number of entries and a decrease in alternation compared with wild-type mice
• mice are often the losers in a social dominance test unlike wild-type mice
• in an open field test
• in a home cage

nervous system
• most notable in the anterior horn region
• with reduction in the mass of the septum
• in 6 of 8 mice, the medial protrusion of the amygdala in the coronal sections is blunted compared to in wild-type mice
• the position and shape of the medial structure rostral to the hippocampus were narrower than in wild-type mice
• slight thinner than in wild-type mice
• the number of cholinergic neurons are decreased in the basal forebrain compared to in wild-type mice





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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory