mortality/aging
|
• mice survive to weaning but fail to thrive and mice are routinely culled within the first 2 weeks after birth to prevent suffering
|
digestive/alimentary system
|
• distal colon exhibits severe disorganization of the mucosa
|
|
• reduction in thickness of the muscle layers in the distal colon
|
|
• a constriction point of variable position is seen within the colon
|
|
• passage of feces along the large intestine is impeded
|
growth/size/body
muscle
|
• reduction in thickness of the muscle layers in the distal colon
|
nervous system
|
• myenteric ganglia are almost entirely absent in the colon
|
|
• the plexus of Auerbach is reduced to isolated patches
|
pigmentation
|
• melanized choroidal cells are absent in the eyes
• however, the retinal pigmented epithelium and other cell layers appear normal
|
vision/eye
|
• melanized choroidal cells are absent in the eyes
• however, the retinal pigmented epithelium and other cell layers appear normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Waardenburg syndrome type 4C | DOID:0110955 |
OMIM:613266 |
J:104443 | |


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