nervous system
• ipsilateral retinogeniculate projections remain widespread in the dorsal lateral geniculate through 12 days of age
|
vision/eye
N |
• periodic retinal discharges are present as early as 2 days of age in Multi Electrode Recordings
|
• wave and spike frequencies are greater than controls
• retinal firing frequency is increased
• increased burst frequency
• higher interspike intervals between bursts, lower percent of time cells are firing at greater than 10 Hz
• retinal waves not regulated by nicotinic acetylcholine receptors as is true for controls
• beta-glycerrhetinic acid (gap junction blocker) decreases wave frequency in mutants but not in controls
|
respiratory system
N |
• breathing parameters are more or less normal at 8 days of age
|
• tidal volume is increased post hypoxia relative to controls at 2 days of age
|
• at 2 days of age
|
• peak ventilation response to hypoxia is significantly lower than for controls at 2 days but similar to controls at 8 days
• ventilation decline during hypoxia is less than for controls at both 2 and 8 days
|
• 16% larger ventilation values at 2 days of age than for controls
|
homeostasis/metabolism
• latency to arouse after hypoxia is shorter than for controls at 2 days of age but similar to controls at 8 days
• movements during hypoxia and post hypoxia fail to increase as they do in controls
|
behavior/neurological
• mutants exhibit alterations of behavioral flexibility and adaptive behaviors coupled with unimpaired memory and anxiety
|
• mutants exhibit improved spatial learning in a modified cross maze with a food reward, learning the task more rapidly and reaching the goal more quickly than wild-type mice
• however, mutants do not exhibit memory or recognition impairments
|
• mutants do not show sensitization to novelty and do not react to drastic changes of maze configuration
|
• mutants do not adapt their displacements over time in the open field as the environment becomes more familiar as in wild-type mice which adapt their displacements from fast navigation at the periphery of an open field to slow displacements toward the center of the arena indicating lack of exploratory interest
• mutants exhibit different exploratory behavior than wild-type when two objects are placed in the environment, showing an absence of the reorganization of the transitions between sequences of actions seen in wild-type mice, indicating that mutants do not exhibit the adaptive processes of becoming familiar with the environment
• mutants, however do not differ in the time spent in the anxiogenic area of the light/dark device or for the number of transitions between both compartments, indicating normal anxiety level
|
• when faced with a social intruder of the same sex, mutants exhibit a higher rate of approach behaviors and lower rates of escape behaviors compared to wild-type mice, indicating disturbed social-interaction showing enhanced social interactions and an impaired capacity for interrupting ongoing behaviors
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
attention deficit hyperactivity disorder | DOID:1094 |
OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312 |
J:99880 | |
autism spectrum disorder | DOID:0060041 | J:99880 |