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Phenotypes Associated with This Genotype
Genotype
MGI:4420313
Allelic
Composition
Gja1tm1Dlg/Gja1tm1Dlg
Tg(GFAP-cre)1Kdmc/0
Genetic
Background
involves: 129S7/SvEvBrd * C3H * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Dlg mutation (1 available); any Gja1 mutation (35 available)
Tg(GFAP-cre)1Kdmc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Shuffler mice develop motor defects and die apparently due to malnutrition

nervous system
• 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
• 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
• 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
• Shuffler mice exhibit enlarged ventricles compared with wild-type mice
• sporadically in Shuffler mice
• 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
• the suprapyramidal blade of the dentate gyrus in the rostral and medial portions of most Shuffler hippocampus is missing unlike in wild-type mice
• in most Shuffler mice at P2 and P60, especially caudally
• 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
• contains ectopic masses composed of neuronal and glial cells in Shuffler mice
• in Shuffler mice at P2, but not P10
• 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
• severely affected Shuffler mice exhibit fused lobes unlike in wild-type mice
• Purkinje cells in Shuffler mice are dispersed and less organized than in wild-type mice
• in Shuffler mice
• disorganized in Shuffler mice
• in some Shuffler mice
• in Shuffler mice at P2 and P10
• at P2, the subventricular zone of Shuffler mice accumulates cells unlike in wild-type mice
• however, the subventricular zone is normal at P10

behavior/neurological
• 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
• at weaning but not at later time points
• Shuffler mice develop motor defects and die apparently due to malnutrition
• in Shuffler mice
• in Shuffler mice

growth/size/body
• at weaning but not at later time points

cellular
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
oculodentodigital dysplasia DOID:0060291 OMIM:164200
OMIM:257850
J:156098


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory