Analysis Tools
reproductive system
 |
• sperm with a higher proportion of abnormal tails
|
|
|
• sperm counts reduced although testes are normal
|
craniofacial
broad snout
(
J:83302
)
|
• broader shorter snout
|
short snout
(
J:83302
)
|
• broader shorter snout
|
growth/size/body
broad snout
(
J:83302
)
|
• broader shorter snout
|
short snout
(
J:83302
)
|
• broader shorter snout
|
|
• underweight at birth
|
adipose tissue
|
• abdominal fat pad weight is increased (1.93+/-0.20 g compared to 0.56+/-0.05 g in wild-type mice)
|
|
• 4.5% compared to 2% in wild-type mice
|
nervous system
|
• overt clinical seizures seen at 4 weeks to 6 months of age
• generalized tonic clonic seizures
• seizures could occur without a clear EEG signature
|
|
• EEG showed paroxysmal spikes and slow discharges
|
skeleton
behavior/neurological
|
• self-injury behavior is observed
• however, no self-injury behavior is observed when mice are single housed
|
|
• male mice, but not female mice, rear less frequently than wild-type mice although the amount of rearing is equivalent
• however, there is no difference in rearing response in female mice
|
|
• when placed in an open field, mice are hypoactive as measured by total distance and movement time data
• when placed in an open field, male mice travel less distance and spend less time moving compared to wild-type mice
• however, there is no difference in total distance, movement time or rearing response in female mice
|
|
• 23.60+/-0.06 hours compared to 23.87+/-0.02 hours in wild-type mice
|
|
• overt clinical seizures seen at 4 weeks to 6 months of age
• generalized tonic clonic seizures
• seizures could occur without a clear EEG signature
|
cellular
|
|
• sperm with a higher proportion of abnormal tails
|
|
|
• sperm counts reduced although testes are normal
|
respiratory system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Smith-Magenis syndrome | DOID:0060768 |
OMIM:182290 |
J:83302 | |
