Phenotypes Associated with This Genotype

Genotype
MGI:2653209

• 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