nervous system
• more rostral boundary between the inferior colliculus and the cerebellum at E17.5
|
• upturning of the external granule layer in the most anterior part of the anterobasal cardinal lobe
• premature halt of the anterior EGL
|
• slightly enlarged isthmic region at E17.5
|
• more anterior position of dorsal boundary
|
• Purkinje cells are present in ectopic position within the isthmic region heading toward the tectum
|
• shorter with the difference in size more pronounced in lateral sections of the vermis at E14.5
|
• Purkinje cells are present in ectopic position within the isthmic region heading toward the tectum
|
• more profound fissure delimiting future lobes II and III
|
• anterobasal cardinal lobe, appears abnormal at P0 and P2
|
• totally missing
|
• hypoplasia and abnormalities with a certain degree of variability
|
• hypoplasia and abnormalities with a certain degree of variability and abnormality in shape
|
behavior/neurological
• the percentage of mean startle amplitude does not significantly decrease from day 1 to day 3 as it does in wild-type mice
• record fewer correct responses in the egocentric spatial version of the cross maze task on the fourth training day
• however, performance in an allocentric version of the maze is not significantly different from controls
|
• delay in learning in a rotarod assay
|
• the percentage of mean startle amplitude does not significantly decrease from day 1 to day 3 as it does in wild-type mice
|
• impaired ability to hang on a wire
|
• make more false steps walking on an inclined wire
|
muscle
N |
• no defects in muscle function are detected
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Opitz GBBB syndrome | DOID:0080697 |
OMIM:300000 |
J:157828 |