Analysis Tools|
Allele Symbol Allele Name Allele ID |
Zic2Ku kumba MGI:1862004 |
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| Summary |
10 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos have mild anterior truncation and disrupted midline development
• however, they never show entire loss of forebrain or any loss of midbrain
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| holoprosencephaly 5 | DOID:0110878 |
OMIM:609637 |
J:238567 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all homozygotes are dead or dying at E13.5
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• significant increase in the number of apoptotic cells in the ectoderm at E7.5
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• 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
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• exhibit delayed posterior neuropore closure
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• open cranial neural tube at E9.5
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• rhombomere 3 is reduced in size
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• rhombomere 5 is reduced in size
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• abnormal forebrain at E9.5
• ventral forebrain tissue between the optic eminences is reduced
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• 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
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• most E12.5 embryos have exencaphaly
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• looped tail
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• significant increase in the number of apoptotic cells in the ectoderm at E7.5
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• 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
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• exhibit delayed posterior neuropore closure
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• open cranial neural tube at E9.5
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• rhombomere 3 is reduced in size
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• rhombomere 5 is reduced in size
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• disruption of the anterior notochord at E9.5
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• 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
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• at the late streak stage, the organizer region (node) is abnormal
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• all E12.5 embryos show abnormally spaced eyes with dysmorphologies ranging from hypotelorism to cyclopia
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• 58% of embryos show cyclopia
• 5% (one embryo) shows two eyes fused at the midline (synophthalmia)
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• 37% of embryos show hypotelorism
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| holoprosencephaly 5 | DOID:0110878 |
OMIM:609637 |
J:138862 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• partial penetrance
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• partial penetrance of distal tail kink
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• seen in a small proportion of heterozygotes
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• partial penetrance of ventral spotting
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• seen in a small proportion of heterozygotes
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• partial penetrance of ventral spotting
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 78% of embryos present with moderate anterior truncation in which variable amounts of forebrain and/or midbrain are retained
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• axial mesendoderm loss
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• 38% of embryos present with moderate or severe anterior truncation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 100% of embryos present with moderate or severe anterior truncation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 72% of embryos present with moderate to severe anterior truncation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• trans-heterozygotes do not exhibit any defects characteristic of either single homozygote
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos exhibit a heart defect
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• embryos fail to turn
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• the forebrain is severely truncated at E9.5
• by E10.5, the forebrain forms a fluid-filled, cyst-like structure
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/19/2024 MGI 6.24 |
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