Analysis Tools
vision/eye
| N |
• mice generated from mutant cell line H11 do not exhibit enlarged eyes
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Allele Symbol Allele Name Allele ID |
Portm1Cbk targeted mutation 1, Charles B Kasper MGI:2159651 |
| Summary |
3 genotypes |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice generated from mutant cell line H11 do not exhibit enlarged eyes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Portm1Cbk/Portm1Cbk embryos either exhibit neural tube, cardiac, eye, and limb bud abnormalities or retarded development
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• homozygotes are present at the expected Mendelian ratios at E8.5-E10.5; however, the frequency of homozygotes declines thereafter and no homozygous embryos are observed after E13.5
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• at E10.5 and E11.5, 90% of homozygotes are significantly friable and display embryonic abnormalities that can be divided into two classes
• Type I embryos are relatively well-developed but exhibit neural tube, cardiac, eye, and limb bud abnormalities
• Type II mutant embryos show a more severe, generalized retardation of development
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• after ~E8.5, most Type II mutant embryos exhibit significant growth retardation
• at E10.5, most Type II mutants are turned but appear severely underdeveloped and small relative to wild-type embryos
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• at E10.5, Type II mutant embryos exhibit a normal yolk sac but no identifiable embryonic structures
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• at E10.5, Type I mutant embryos show abnormal size and positioning of the branchial arches relative to the fronto-nasal region
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• at E10.5, Type I mutant embryos show a variable open neural tube phenotype, with hindbrain neural folds failing to elevate and fuse
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• at E10.5, Type I mutants display failure of neural fold elevation and dorsal fusion, and eversion of the neural tube in the hindbrain and midbrain region resulting in a "ruffled" head morphology
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• after ~E8.5, most Type II mutant embryos exhibit significant growth retardation
• at E10.5, most Type II mutants are turned but appear severely underdeveloped and small relative to wild-type embryos
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• at E11.5, some Type I mutant embryos exhibit a thinner myocardial wall while others display a thickened myocardial wall
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• at E11.5, Type I mutant embryos exhibit abnormal development of the outflow tract, with little evidence of mesenchyme proliferation
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• at E11.5, Type I mutant embryos exhibit impaired ventricular development
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• at E11.5, Type I mutant hearts show a notable reduction in the development of ventricular trabeculae
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• at E10.5, Type I mutants display an enlarged, fluid-filled pericardial cavity
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• at E10.5, Type II mutants exhibit an observable heartbeat despite the presence of pericardial edema
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• at E10.5, Type I mutant embryos display petechial hemorrhaging at the edges of hindbrain neural folds
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• at E10.5, Type II mutants exhibit an observable heartbeat despite the presence of pericardial edema
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• at E10.5, Type II mutant embryos display delayed fore- and hindlimb formation
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• at E10.5, Type I mutant embryos display a short tail
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• at E10.5, Type II mutant embryos display delayed cranial development
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• at E10.5, Type I mutant embryos show abnormal size and positioning of the branchial arches relative to the fronto-nasal region
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• at E10.5, Type I mutant embryos display petechial hemorrhaging at the edges of hindbrain neural folds
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• at E10.5, Type I mutants display failure of neural fold elevation and dorsal fusion, and eversion of the neural tube in the hindbrain and midbrain region resulting in a "ruffled" head morphology
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• at E10.5, Type I mutant embryos exhibit exencephaly
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• at E10.5, Type I mutant embryos exhibit eye abnormalities
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• Type I mutant embryos display a rough surface, consistent with increased friability, suggesting defects in cell adhesion and/or membrane structure
• no Type II embryos remain intact through the fixation process
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• at E11.5, Type I mutant embryos exhibit increased apoptosis in the fronto-nasal region and the apical epidermal ridges of the limb bud
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• at E11.5, some Type I mutant embryos exhibit a thinner myocardial wall while others display a thickened myocardial wall
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• at E11.5, Type I mutant hearts show a notable reduction in the development of ventricular trabeculae
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes are detected at a reduced Mendelian frequency at late gestational stages (E14.5-E18.5), indicating some embryonic loss
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• at 2 weeks, heterozygotes are obtained at a reduced frequency of 56% vs the 67% expected for a 1:2 wild-type:heterozygote ratio
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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 04/09/2024 MGI 6.23 |
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