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Allele Symbol Allele Name Allele ID |
Gpr161tm1.2Smuk targeted mutation 1.2, Saikat Mukhopadhyay MGI:6357710 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all fetuses exhibit protrusive tectal defects (tectal hypertrophy) at E13.5-E17.5
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• at E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although fetuses survive to E18.5, no liveborn pups are recovered
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• significant increase in nasal bone volume at E17.5
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• hard palatal shelves are not fused along the midline
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• mild cleft palate at E15.5 and E17.5
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• underdeveloped nasal septum at E13.5 and E15.5
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• ~98% of fetuses show anotia/microtia at E13.5- E18.5
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• protrusive tectal defects are secondary to increased proliferation of midbrain neural progenitor cells
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• at E13.5, cell proliferation is significantly increased in the ventricular zone of the midbrain, suggesting that protrusive tectal defects are secondary to increased proliferation of midbrain neural progenitor cells
• Gli1 expression is significantly increased in the dorsal midbrain at E13.5
• Shh signaling activity and upstream Wnt signaling activity are both increased in midbrain tissues at E13.5
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• fourth ventricle is enlarged at E13.5
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• midbrain protrusion is initially observed at E13.5 and at E15.5
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• dorsal midbrain is enlarged by E15.5
• overall midbrain tissues are expanded
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• mesencephalic vesicle is enlarged at E13.5
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• tectum is extended at E13.5
• ~98% of fetuses exhibit protrusive tectal defects (tectal hypertrophy) at E13.5-E18.5
• protrusive tectal defects are partly due to increased midbrain neural progenitor cell proliferation
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• spinal edema at E15.5
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• brain herniation along with protruded meninges is detected in the mesencephalic ventricles at E17.5
• ~69% of fetuses exhibit encephalocele at E17.5-E18.5
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• severe orofacial defects at E13.5
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• cranial neural crest cell (CNCC)-derived craniofacial bone formation is impaired
• significant loss of mineralized skull and facial bones at E17.5
• however, overall head size and formation of palatine, interparietal and occipital bones are unaffected
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• frontal bones even fail to form
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• significant reduction in frontal bone volume at E17.5
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• significant reduction in parietal bone segments and volume at E17.5
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• widened mandible at E17.5
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• significant reduction in mandibular bone volume at E17.5
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• underdeveloped mandible at E13.5 and E15.5
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• irregular shapes of maxillary bone at E13.5 and E15.5, with widened maxilla at E17.5
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• significant reduction in premaxilla volume at E17.5
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• significant reduction in maxillary bone volume at E17.5
|
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• shortened maxillary bone at E13.5 and E15.5
|
|
• significant increase in nasal bone volume at E17.5
|
|
• hard palatal shelves are not fused along the midline
|
|
• mild cleft palate at E15.5 and E17.5
|
|
• underdeveloped nasal septum at E13.5 and E15.5
|
|
• ~98% of fetuses show anotia/microtia at E13.5- E18.5
|
|
• cranial neural crest cell (CNCC)-derived craniofacial bone formation is impaired
• significant loss of mineralized skull and facial bones at E17.5
• however, overall head size and formation of palatine, interparietal and occipital bones are unaffected
|
|
• frontal bones even fail to form
|
|
• significant reduction in frontal bone volume at E17.5
|
|
• significant reduction in parietal bone segments and volume at E17.5
|
|
• widened mandible at E17.5
|
|
• significant reduction in mandibular bone volume at E17.5
|
|
• underdeveloped mandible at E13.5 and E15.5
|
|
• irregular shapes of maxillary bone at E13.5 and E15.5, with widened maxilla at E17.5
|
|
• significant reduction in premaxilla volume at E17.5
|
|
• significant reduction in maxillary bone volume at E17.5
|
|
• shortened maxillary bone at E13.5 and E15.5
|
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• significant increase in nasal bone volume at E17.5
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• severe defects in intramembranous bone formation, involving cranial vault and facial bones
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• ~98% of fetuses show anophthalmia/microphthalmia at E13.5- E18.5
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• ~98% of fetuses show anophthalmia/microphthalmia at E13.5- E18.5
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|
• ~98% of fetuses show anotia/microtia at E13.5- E18.5
|
|
• hard palatal shelves are not fused along the midline
|
|
• mild cleft palate at E15.5 and E17.5
|
|
• protrusive tectal defects are secondary to increased proliferation of midbrain neural progenitor cells
|
|
• significant increase in nasal bone volume at E17.5
|
|
• underdeveloped nasal septum at E13.5 and E15.5
|
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 04/30/2024 MGI 6.23 |
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