mortality/aging
• average age of death is at 8 months of age
|
behavior/neurological
• nearly all mice exhibit clasping at 6 to 9 months of age unlike wild-type mice
|
• at 3 months of age mice had lost strength compared to homozygotes at 2 months of age or wild-type mice at 3 months of age
|
• at 6 to 9 months of age
|
• at 6.5 months of age
|
• at 6 to 9 months of age
|
• mice exhibit progressive hindlimb paralysis beginning at 6.5 months of age
|
nervous system
• at 8 months, mice exhibit neurons (Purkinje, astrocyte, microglial, and pyramidal cells) with large numbers of inclusions mostly confined to the basilar cytoplasm
|
• at 7 to 9 months of age
|
• mice exhibit optic nerve pallor
|
vision/eye
• mice exhibit optic nerve pallor
|
• dystrophic
|
digestive/alimentary system
• mice exhibit extremely large vesicles in the gastric mucosa with only minor reductions in the number of granular pit cells and zymogenic cells
|
cardiovascular system
• subtle defect at 6 to 9 months of age
|
adipose tissue
• at 6 to 9 months of age
|
growth/size/body
• at 6 to 9 months of age
|
• at 6 to 9 months of age
|
muscle
• subtle defect at 6 to 9 months of age
|
• at 6 to 9 months of age
|
renal/urinary system
• at 7 to 9 months of age
|
homeostasis/metabolism
immune system
• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles
|
integument
• at 6 to 9 months of age
|
hematopoietic system
• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
mucolipidosis type IV | DOID:0080490 |
OMIM:252650 |
J:135368 |