Analysis Tools
mortality/aging
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• die shortly after birth, however limb skeletal patterns remain relatively unaffected
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Allele Symbol Allele Name Allele ID |
Shhtm2Chg targeted mutation 2, Chin Chiang MGI:3628824 |
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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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• die shortly after birth, however limb skeletal patterns remain relatively unaffected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal outflow tracts
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• at E18.5, 4 of 16 mice exhibit abnormal arch-artery patterning compared with wild-type mice
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• in 14 of 16 mice
• however, mice exhibit normal outflow tract length with no increase in apoptosis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• exhibit defective development of the carpal and tarsal bones in the central digit
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• in the forelimb, digit 2 is replaced with a biphalangeal digit characteristic of digit 1
• in the hindlimb, digit 1 is replaced by digits with more posterior characteristics
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• exhibit defective development of the carpal and tarsal bones in the central digit
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• exhibit defective development of the carpal and tarsal bones in the central digit
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• exhibit defective development of the carpal and tarsal bones in the central digit
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• animals die perinatally
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• brain defects mimic human holoprosencephaly but external craniofacial morphology is relatively unaffected
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• enlarged
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• enlarged midbrain
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• ventricles are enlarged at E10.5
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• development is defective at E13.5
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• telencephalic ventricles are widely separated at E10.5
• at E12.5, telencephalon lacks thickened hippocampal neuroepithelium
• at E10.5 dorsal midline has failed to invaginate in contrast to wild-type
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• defective at E13.5
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• apoptotic activity is eliminated in dorsal midline of telencephalon in contrast to wild-type at E9.5; apoptosis is 7-fold lower than in wild-type
• at E10, proliferation in roof plate region is similar to adjacent tissues and higher than seen in wild-type whereas proliferation is differentially reduced in wild-type embryo roof plate region
• dorsal midline is severely hypoplastic and lacks conjunction of corpus callosum and septum
• increased proliferation and decreased apoptosis persists at E10.5
• telencephalon lacks middle anterior commissure and characteristic choroid plexuses and hippocampal structures that are seen in wild-type; telencephalon lacks well-formed U-shaped hippocampus and ventricles are separated by enlarged thalamus
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• frequent agenesis of dorsal corpus callosum is seen
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• mutants lack olfactory bulbs
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• a third eminence in addition to LGE and MGE is observed in mutants at E12.5
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• eminence is expanded at expense of cortical domain of telencephalon
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• eminence is expanded at expense of cortical domain of telencephalon
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• many embryos display bulging cranium
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• the maxillary shelves are not fully mineralized in the mutant
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• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves
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• mutants have cleft secondary palate
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• the maxillary shelves are not fully mineralized in the mutant
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• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves
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• mutants have cleft secondary palate
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• many embryos display bulging cranium
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• the maxillary shelves are not fully mineralized in the mutant
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• develop six to seven digits per limb with complete formation of digits 2-5 (preaxial polydactyly)
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• the maxillary shelves are not fully mineralized in the mutant
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• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves
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• mutants have cleft secondary palate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• survive to at least E18.5
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• digits show segmentation and calcification defects
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• develop 6-7 digits per limb (preaxial polydactyly)
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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 04/16/2024 MGI 6.23 |
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