Analysis Tools|
Allele Symbol Allele Name Allele ID |
Gja1tm1Dlg targeted mutation 1, Brian R Duling MGI:2159007 |
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| Summary |
3 genotypes
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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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• Shuffler mice develop motor defects and die apparently due to malnutrition
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• at P2, radial glial cells in Shuffler mice that stretch across the cortical layers are not as prominent or organized as in wild-type mice
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• Background Sensitivity: mice further backcrossed to 129S/SvEv exhibit behavioral and neurological defects identified as the Shuffler phenotype unlike mice further backcrossed to C57BL/6J mice
• the relationship between the mesencephalon and the dorsal telencephalon is altered in Shuffler mice compared to in wild-type mice
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• at P2, the Shuffler ventricular zone is virtually cell-free, particularly in the lateral and medial cortex, unlike in wild-type mice
• however, the ventricular zone is normal at P10
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• Shuffler mice exhibit enlarged ventricles compared with wild-type mice
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• sporadically in Shuffler mice
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• at P10, neuronal lamination and size of the hippocampus and cerebellum in Shuffler mice progressively deteriorate compared to in wild-type mice
• Shuffler mice exhibit disorganized neuronal lamination with abnormal dispersal of the CA3 field compared to in wild-type mice
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• the suprapyramidal blade of the dentate gyrus in the rostral and medial portions of most Shuffler hippocampus is missing unlike in wild-type mice
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• in most Shuffler mice at P2 and P60, especially caudally
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• at P10, neuronal lamination and size of the hippocampus and cerebellum in Shuffler mice progressively deteriorate compared to in wild-type mice
• at P60, Shuffler mice exhibit a disorganized cerebellum unlike in wild-type mice
• Shuffler mice exhibit abnormal lamination of the cerebellum unlike wild-type mice
• mildly affected Shuffler mice exhibit abnormalities throughout the entire cerebellum while severely affected Shuffler mice exhibit defects in the rostral cerebellar lobes
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• contains ectopic masses composed of neuronal and glial cells in Shuffler mice
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• in Shuffler mice at P2, but not P10
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• at P2, the cerebellar cortex of Shuffler mice exhibits cell loss and disorganization compared to in wild-type mice
• at P60, the cerebellar cortex is thin in Shuffler mice compared to in wild-type mice
• Shuffler mice exhibit delamination and disorganization of Purkinje cells, granule cells, and Bergmann glia compared with wild-type mice
• Shuffler mice exhibit disrupted Bergmann glia morphology and lamination compared with wild-type mice
• however, cortical lamination is normal at P10
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• severely affected Shuffler mice exhibit fused lobes unlike in wild-type mice
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• Purkinje cells in Shuffler mice are dispersed and less organized than in wild-type mice
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• in Shuffler mice
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• disorganized in Shuffler mice
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• in some Shuffler mice
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• in Shuffler mice
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• in Shuffler mice at P2 and P10
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• at P2, the subventricular zone of Shuffler mice accumulates cells unlike in wild-type mice
• however, the subventricular zone is normal at P10
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• Background Sensitivity: mice further backcrossed to 129S/SvEv exhibit behavioral and neurological defects identified as the Shuffler phenotype unlike mice further backcrossed to C57BL/6J mice
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• at weaning but not at later time points
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• Shuffler mice develop motor defects and die apparently due to malnutrition
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• in Shuffler mice
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• at weaning but not at later time points
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• at P2, radial glial cells in Shuffler mice that stretch across the cortical layers are not as prominent or organized as in wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| oculodentodigital dysplasia | DOID:0060291 |
OMIM:164200 OMIM:257850 |
J:156098 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• elevation of plasma nitric oxide levels and plasma angiotensin I and II levels
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• mean systolic blood pressure is lower
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• elevation of plasma nitric oxide levels
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• elevation of plasma angiotensin I and II levels
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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 11/12/2024 MGI 6.24 |
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