All Phenotypes Zic2<Ku> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zic2^Ku/Zic2^Ku	129S.CAnNCrl(C3)-Zic2^Ku	MGI:5827598
hm2	Zic2^Ku/Zic2^Ku	C3.CAnNCrl-Zic2^Ku	MGI:3639581
ht3	Zic2^Ku/Zic2⁺	C3.CAnNCrl-Zic2^Ku	MGI:3639580
ht4	Zic2^Ku/Zic2⁺	involves: BALB/c * C3H/HeN	MGI:2175095
cx5	Nodal^tm1Rob/Nodal⁺ Zic2^Ku/Zic2^Ku	129S.Cg-Nodal^tm1Rob Zic2^Ku	MGI:5827606
cx6	Nodal^tm2Rob/Nodal⁺ Zic2^Ku/Zic2^Ku	129S.Cg-Nodal^tm2Rob Zic2^Ku	MGI:5827602
cx7	Nodal^tm2Rob/Nodal^tm2Rob Zic2^Ku/Zic2^Ku	129S.Cg-Nodal^tm2Rob Zic2^Ku	MGI:5827603
cx8	Nodal^tm2Rob/Nodal^tm2Rob Zic2^Ku/Zic2⁺	129S.Cg-Nodal^tm2Rob Zic2^Ku	MGI:5827604
cx9	Shh⁺/Shh^tm1Chg Zic2^Ku/Zic2⁺	involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl * C3H/HeH	MGI:5827502
cx10	Shh^tm1Chg/Shh^tm1Chg Zic2^Ku/Zic2^Ku	involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl * C3H/HeH	MGI:5827501

Allelic Composition	Zic2^Ku/Zic2^Ku
Genetic Background	129S.CAnNCrl(C3)-Zic2^Ku

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

embryo

rostral body truncation ( J:238567 )

• embryos have mild anterior truncation and disrupted midline development

• however, they never show entire loss of forebrain or any loss of midbrain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 5		DOID:0110878	OMIM:609637	J:238567

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:86841 )

• all homozygotes are dead or dying at E13.5

cellular

increased ectoderm apoptosis ( J:138862 )

• significant increase in the number of apoptotic cells in the ectoderm at E7.5

nervous system

decreased neural crest cell number ( J:86841 )

• reduction in the number of neural crest cells produced both in the cranial and trunk regions

• the posterior limit of crest is shifted rostrally relative to wild-type

• the number of crest cells following the subectodermal or the ventrolateral pathways are significantly reduced while the ventromedial pathway is only affected in the younger embryos, however migration is normal

delayed caudal neuropore closure ( J:86841 )

• exhibit delayed posterior neuropore closure

incomplete rostral neuropore closure ( J:86841 )

• open cranial neural tube at E9.5

spina bifida ( J:138862 )

decreased rhombomere 3 size ( J:86841 )

• rhombomere 3 is reduced in size

decreased rhombomere 5 size ( J:86841 )

• rhombomere 5 is reduced in size

abnormal forebrain development ( J:138862 )

• abnormal forebrain at E9.5

• ventral forebrain tissue between the optic eminences is reduced

holoprosencephaly ( J:138862 )

• mice exhibit a typical spectrum of holoprosencephaly phenotypes

• remnants of forebrain tissue are rostral of the eye and this tissue remains as a single mass of neural cells with no interhemispheric fissure

exencephaly ( J:138862 )

• most E12.5 embryos have exencaphaly

craniofacial

proboscis ( J:138862 )

growth/size/body

proboscis ( J:138862 )

cardiovascular system

hematoma ( J:86841 )

• exhibit hematomas of the forebrain

limbs/digits/tail

curly tail ( J:138862 )

• looped tail

embryo

increased ectoderm apoptosis ( J:138862 )

• significant increase in the number of apoptotic cells in the ectoderm at E7.5

decreased neural crest cell number ( J:86841 )

• reduction in the number of neural crest cells produced both in the cranial and trunk regions

• the posterior limit of crest is shifted rostrally relative to wild-type

delayed caudal neuropore closure ( J:86841 )

• exhibit delayed posterior neuropore closure

incomplete rostral neuropore closure ( J:86841 )

• open cranial neural tube at E9.5

spina bifida ( J:138862 )

decreased rhombomere 3 size ( J:86841 )

• rhombomere 3 is reduced in size

decreased rhombomere 5 size ( J:86841 )

• rhombomere 5 is reduced in size

abnormal notochord morphology ( J:138862 )

• disruption of the anterior notochord at E9.5

abnormal prechordal plate morphology ( J:138862 )

• marker analysis indicates aberrant prechordal plate development, however prechordal plate development is initiated in mutants

• marker analysis indicates that prechordal plate cells are specified correctly but that the node of the mid-gastrula embryo is defective

abnormal primitive node morphology ( J:138862 )

• at the late streak stage, the organizer region (node) is abnormal

vision/eye

abnormal eye distance/ position ( J:138862 )

• all E12.5 embryos show abnormally spaced eyes with dysmorphologies ranging from hypotelorism to cyclopia

cyclopia ( J:138862 )

• 58% of embryos show cyclopia

• 5% (one embryo) shows two eyes fused at the midline (synophthalmia)

ocular hypotelorism ( J:138862 )

• 37% of embryos show hypotelorism

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 5		DOID:0110878	OMIM:609637	J:138862

Allelic Composition	Zic2^Ku/Zic2⁺
Genetic Background	C3.CAnNCrl-Zic2^Ku

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

limbs/digits/tail

curly tail ( J:86841 )

• partial penetrance

kinked tail ( J:86841 )

• partial penetrance of distal tail kink

nervous system

spina bifida ( J:86841 )

• seen in a small proportion of heterozygotes

pigmentation

belly spot ( J:86841 )

• partial penetrance of ventral spotting

embryo

spina bifida ( J:86841 )

• seen in a small proportion of heterozygotes

integument

belly spot ( J:86841 )

• partial penetrance of ventral spotting

Allelic Composition	Zic2^Ku/Zic2⁺
Genetic Background	involves: BALB/c * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

pigmentation

belly spot ( J:63816 )

limbs/digits/tail

curly tail ( J:63816 )

integument

belly spot ( J:63816 )

Allelic Composition	Nodal^tm1Rob/Nodal⁺ Zic2^Ku/Zic2^Ku
Genetic Background	129S.Cg-Nodal^tm1Rob Zic2^Ku

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (1 available); any Nodal mutation (41 available)
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

embryo

rostral body truncation ( J:238567 )

• 78% of embryos present with moderate anterior truncation in which variable amounts of forebrain and/or midbrain are retained

Allelic Composition	Nodal^tm2Rob/Nodal⁺ Zic2^Ku/Zic2^Ku
Genetic Background	129S.Cg-Nodal^tm2Rob Zic2^Ku

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm2Rob mutation (0 available); any Nodal mutation (41 available)
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

embryo

abnormal mesendoderm development ( J:238567 )

• axial mesendoderm loss

rostral body truncation ( J:238567 )

• 38% of embryos present with moderate or severe anterior truncation

Allelic Composition	Nodal^tm2Rob/Nodal^tm2Rob Zic2^Ku/Zic2^Ku
Genetic Background	129S.Cg-Nodal^tm2Rob Zic2^Ku

Find Mice

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

embryo

rostral body truncation ( J:238567 )

• 100% of embryos present with moderate or severe anterior truncation

Allelic Composition	Nodal^tm2Rob/Nodal^tm2Rob Zic2^Ku/Zic2⁺
Genetic Background	129S.Cg-Nodal^tm2Rob Zic2^Ku

Find Mice

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

embryo

rostral body truncation ( J:238567 )

• 72% of embryos present with moderate to severe anterior truncation

Allelic Composition	Shh⁺/Shh^tm1Chg Zic2^Ku/Zic2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shh^tm1Chg mutation (1 available); any Shh mutation (45 available)
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

normal phenotype

no abnormal phenotype detected ( J:138862 )

• trans-heterozygotes do not exhibit any defects characteristic of either single homozygote

Allelic Composition	Shh^tm1Chg/Shh^tm1Chg Zic2^Ku/Zic2^Ku
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl * C3H/HeH

Find Mice

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

cardiovascular system

abnormal heart morphology ( J:138862 )

• embryos exhibit a heart defect

embryo

failure of initiation of embryo turning ( J:138862 )

• embryos fail to turn

decreased embryo size ( J:138862 )

growth/size/body

decreased embryo size ( J:138862 )

nervous system

abnormal forebrain morphology ( J:138862 )

• the forebrain is severely truncated at E9.5

• by E10.5, the forebrain forms a fluid-filled, cyst-like structure

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