mortality/aging
• no mutants observed at weaning but some are present as stillborn pups
|
• the expected numbers are seen at E18.5, however 7 of 18 are either dead or in the process of being absorbed, indicating that some die before E18.5
|
nervous system
• cerebellum is misshapen and appears underdeveloped
|
• the tightly organized layer of neuroepithelium at the ventricular surface is absent or is replaced or obscured by Map2 immunoreactive postmitotic neuronal cells
|
• midbrain is distorted by the abnormally large aqueduct
|
• aqueduct is abnormally dilated
|
• forebrain is misshapen
|
• thalamus is malformed and displaced
|
• along the midline, the entire septal area is misshapen and reduced
|
• lateral ventricles are abnormally dilated
|
• exhibit abnormal organization and thickening of the striatal subventricular zone
• however, the striatum does not show evidence of Huntington's disease-like pathology
|
• hippocampus is malformed and displaced
|
• agenesis of the fimbria
|
• olfactory bulbs are malformed and displaced
|
• display abnormal organization and thickening of the striatal subventricular zone that contains ectopic cell masses that protrude into the lateral ventricles
|
exencephaly
(
J:44391
)
• 4 of 11 fetuses exhibit exencephaly, with the forebrain and midbrain protruding from the open skull
|
• fiber tracts exhibit extensive agenesis
|
cardiovascular system
• head region is conspicuously vascularized
|
craniofacial
domed cranium
(
J:44391
)
• domed cranium
|
• uni- or bilateral misplaced external ears
|
• uni- or bilateral misshapen external ears
|
hearing/vestibular/ear
• uni- or bilateral misplaced external ears
|
• uni- or bilateral misshapen external ears
|
skeleton
domed cranium
(
J:44391
)
• domed cranium
|
integument
thick skin
(
J:44391
)
• thickened waxy skin
|
growth/size/body
• pups alive at E18.5, display a more severe head phenotype than seen in Hdhtm7Mem homozygotes
|
• uni- or bilateral misplaced external ears
|
• uni- or bilateral misshapen external ears
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
NOT | Huntington's disease | DOID:12858 |
OMIM:143100 |
J:44391 |