growth/size/body
• mutant mice are smaller than wild-type
|
behavior/neurological
• mutants have trouble using their hindlimbs and often stumble (ie. when walking over a metal grid)
|
• mutants show no reaction to being touched lightly on the flank or to a needle poke
|
• hind legs of mutants appear weak and uncoordinated
|
• when placed on a metal grid which is then inverted, mutants often lose their grip (11/17) and fall with a average time to falling 17.7 seconds compared to wild-type (1 animal fell after 56 seconds)
|
• mutants placed on a warm plate display a delay in jumping off the plate compared to wild-type
|
nervous system
• Background Sensitivity: a high percentage of male mutants on the C57BL/6J background displayed enlarged brain ventricles; on a 129/SvEv background, no animals had enlarged ventricles
|
• in mutants, many non-myelinating Schwann cells (87%) form additional processes, protruding in the endoneurial space not associated with axons and covered by a basal lamina; no wild-type non-myelinating Schwann cells have such processes
|
• size is reduced in mutants
|
• when cultured on poly-L-lysine + L1 substrate, mutant cerebellar neurons show no outgrowth whereas wild-type neurons grow vigorously
• cerebellar explants from mutant mice show reduced fasciculation compared to wild-type
|
vision/eye
enophthalmos
(
J:43838
)
• eyes of mutants are set further back in their sockets
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
MASA syndrome | DOID:0060246 |
OMIM:303350 |
J:43838 |