Analysis Tools|
Allele Symbol Allele Name Allele ID |
Chn1tm1.1Ece targeted mutation 1.1, Elizabeth C Engle MGI:6406374 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abducens nerve stalling to the lateral rectus is seen at E11.5 and E16.5 mutants lack abducens nerves in the orbital area
• E16.5 mutants show oculomotor misinnervation of the lateral rectus
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abducens nerve stalls and fails to innervate the lateral rectus and is absent from the orbit at E16.5
• oculomotor nerve aberrantly innervates the lateral rectus muscle, indicating compensatory innervation
• however, oculomotor nerve has a normal trajectory to the orbit
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• the number of abducens motor neurons is greatly reduced by E13.5, but is normal at E10.5, immediately prior to abducens stalling, indicating secondary motor neuron apoptosis by E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 71.8% penetrance of unilateral or bilateral globe retraction
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• the abducens nerve has fewer hindbrain exiting bundles that are over-fasciculated in the hindbrain
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• the abducens nerve has fewer hindbrain exiting bundles (30% reduction) that are over-fasciculated in the hindbrain and stalled with variable penetrance midway between the hindbrain and orbit at E11.5
• stalled abducens nerve bundles do not reach the orbit, resulting in secondary aberrant
misinnervation of the lateral rectus muscle by the oculomotor nerve
• E11.5 embryos show errors in trochlear nerve projections; trochlear axons cross the midline and exit dorsally as in wild-type embryos, but the axons form multiple fascicles instead of one nerve bundle, most of which extend appropriately toward the contralateral orbit, but some turn back and misproject toward the ipsilateral orbit
• in E11.5 embryos, the first cervical spine nerve exits the brainstem appropriately, but turns dorsally toward the dermomyotome with variable bilateral penetrance
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• embryos show an absence or thinning of the abducens nerve at the primitive extraocular muscles anlage at the orbit, as seen by a reduction in abducens nerve diameter near the orbit
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• the abducens nerve has fewer hindbrain exiting bundles that are over-fasciculated in the hindbrain
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Duane retraction syndrome | DOID:12557 |
OMIM:126800 OMIM:604356 |
J:243785 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 61.3% penetrance of unilateral or bilateral globe retraction
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• 21% reduction in abducens nerve exiting bundles from its hindbrain exit to the orbit at E11.5
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• embryos show an absence or thinning of the abducens nerve at the primitive extraocular muscle anlage at the orbit, as seen by a reduction in abducens nerve diameter near the orbit
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos exhibit trochlear nerve branching abnormalities similar to those of Chn1tm1.1Ece homozygous embryos
• however, the first cervical spine projections are normal
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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 12/10/2024 MGI 6.24 |
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