behavior/neurological phenotype

• abnormal nest building behavior
  • mice show deficits in nest-building relative to wild-type, with fewer animals building or completing nests than wild-type animals over the same time period
  (MGI Ref ID J:135825)

• impaired coordination
  • Background Sensitivity - mice display impaired performance in coordination tasks like the rotating rod, hanging wire, and dowel walking tests
  (MGI Ref ID J:135825)

• abnormal social investigation
  • mice have altered social behavior and spend more time than wild-type animals interacting with an unfamiliar mouse or with a 'familiar' mouse that has been reintroduced into the cage
  (MGI Ref ID J:135825)

• abnormal touch/ nociception
  • mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity
  (MGI Ref ID J:135825)

• decreased startle reflex
  • mice have a decreased startle response relative to wild-type
  (MGI Ref ID J:135825)

• increased thermal nociceptive threshold
  • mice show increased latency in the hot plate assay
  (MGI Ref ID J:135825)

growth/size/body region phenotype

• increased body weight
  • Background Sensitivity - a mild increase (animals are about 1 gram heavier) is observed relative to wild-type or F1 mutants from an FVB/N cross
  (MGI Ref ID J:135825)

mammalian phenotype

• mortality/aging
  • Normal - no early mortality is observed in contrast to Mecp2-null animals
  (MGI Ref ID J:135825)

nervous system phenotype

• decreased prepulse inhibition
  • mice show decreased prepulse inhibition at 74 and 82 decibels compared to wild-type
  (MGI Ref ID J:135825)

behavior/neurological phenotype

• abnormal gait
  • develop a stiff, uncoordinated gait
  (MGI Ref ID J:67910)

• limb grasping
  (MGI Ref ID J:67910)

• hypoactivity
  (MGI Ref ID J:67910)

skeleton phenotype

• abnormal tooth morphology
  • frequently exhibit uneven wearing of the teeth
  (MGI Ref ID J:67910)

craniofacial phenotype

• abnormal tooth morphology
  • frequently exhibit uneven wearing of the teeth
  (MGI Ref ID J:67910)

endocrine/exocrine gland phenotype

• cryptorchism
  (MGI Ref ID J:67910)

growth/size/body region phenotype

• abnormal tooth morphology
  • frequently exhibit uneven wearing of the teeth
  (MGI Ref ID J:67910)

• decreased body weight
  (MGI Ref ID J:67910)

mortality/aging

• premature death
  (MGI Ref ID J:67910)

reproductive system phenotype

• cryptorchism
  (MGI Ref ID J:67910)

growth/size/body region phenotype

• weight loss
  • mice exhibit a period of rapid weight loss preceding death; initial weight gain is normal
  (MGI Ref ID J:166851)

mammalian phenotype

• behavior/neurological phenotype
  • Normal - mice recognize and habituate to a novel vanilla odorant; mutants did spend more time sniffing the novel scent than controls (possible manifestation of repetitive behavior) on the first day, but show no differences on the second day
  (MGI Ref ID J:166851)
  • Normal - at 12 weeks of age, mice show similar responses to controls in thermal nociception assays, indicating that the self-injury observed is not due to impaired nociception
  (MGI Ref ID J:166851)
  • Normal - animals show no increased interest in a novel object than controls at 11-12 weeks
  (MGI Ref ID J:166851)
  • Normal - mice display no anxiety-like phenotypes, indicating that hypoactivity or altered social behavior does not result from increased anxiety
  (MGI Ref ID J:166851)

• nervous system phenotype
  • Normal - paired pulse ratio is not significantly altered in neurons
  (MGI Ref ID J:166851)
  • Normal - miniature excitatory postsynaptic current quantal size and frequency are similar to controls
  (MGI Ref ID J:166851)

mortality/aging

• premature death
  • around 50% of mutant mice die by 26 weeks
  (MGI Ref ID J:166851)

nervous system phenotype

• abnormal nervous system electrophysiology
  • non-seizure hyperexcitability discharges are frequently observed in cultured neurons, but no electrographic seizures are seen
  (MGI Ref ID J:166851)

• increased prepulse inhibition
  • mice show an increased prepulse inhibition at 78 and 82 dB prepulses at 8 weeks
  (MGI Ref ID J:166851)

• abnormal miniature inhibitory postsynaptic currents
  • amplitude and charge of mIPSCs from layer 2/3 pyramidal neurons of the somatosensory cortex are reduced; no change in frequency is observed
  (MGI Ref ID J:166851)
  • similar results are observed in autaptic GABAergic striatal neurons
  (MGI Ref ID J:166851)

• reduced long term potentiation
  • impaired LTP induced by theta-burst stimulation of Schaffer collaterals is detected
  (MGI Ref ID J:166851)

respiratory system phenotype

• abnormal breathing pattern
  (MGI Ref ID J:166851)

• decreased tidal volume
  • coinciding with weight loss, mice display a 42% reduction in tidal volume (and 45% reduction in minute volume)
  (MGI Ref ID J:166851)

• respiratory distress
  (MGI Ref ID J:166851)

• apnea
  • mice display frequent apneas of greater than 0.4 second durations, coincident with weight loss
  (MGI Ref ID J:166851)

• abnormal respiratory function
  • severe respiratory dysfunction is coincident with weight loss
  (MGI Ref ID J:166851)

behavior/neurological phenotype

• decreased grip strength
  • at 9 weeks, mice show decreased time wire hang time prior to falling and reduce forelimb grip strength compared to controls
  (MGI Ref ID J:166851)

• increased grooming behavior
  • time spent grooming is 300% greater than in control mice; excessive grooming leads to fur loss and epidermal lesions in group- and single-housed mice
  (MGI Ref ID J:166851)

• abnormal social investigation
  • mice spend more time showing directed interest (sniffing, pawing, rearing) near the novel partner mouse than displayed by controls in a 3-chamber assay of social interaction at 12-13 weeks
  (MGI Ref ID J:166851)

• abnormal spatial learning
  • in a Morris water maze paradigm, animals show a similar rate of learning to control during the 4 training days, but have difficulty locating the platform during the probe trial
  (MGI Ref ID J:166851)

• abnormal nest building behavior
  • mice are poor nest builders, possibly due to social behavior alterations or to forelimb apraxia at 13 weeks
  (MGI Ref ID J:166851)

• decreased startle reflex
  • mice have impaired maximum acoustic startle response than controls to 120 dB at 8 weeks
  (MGI Ref ID J:166851)

• impaired coordination
  • at 5 weeks, mice show increased numbers of footslips on a wire grid and impaired dowel walk at 9 weeks
  (MGI Ref ID J:166851)
  • mice have a shorter latency to fall on an accelerating rotarod at 19 weeks
  (MGI Ref ID J:166851)

• hypoactivity
  • there is a trend to reduced activity observed at 12 weeks, while 19-week old mice are hypoactive
  (MGI Ref ID J:166851)

• limb grasping
  • after 5 weeks of age, mice show repetitive behavior such as hindlimb clasping
  (MGI Ref ID J:166851)

• increased stereotypic behavior
  • male mice begin to show repetitive behaviors after 5 weeks of age such as forelimb stereotypies similar to the mid-line hand-wringing that characterizes Rett syndrome in humans
  (MGI Ref ID J:166851)
  • animals display a greater tendency to place their nose in the same hole 2 or more sequential times in a holeboard assay for head-dipping stereotypy
  (MGI Ref ID J:166851)

nervous system phenotype

• decreased prepulse inhibition
  • mice show decreased prepulse inhibition compared to wild-type
  (MGI Ref ID J:135825)

respiratory system phenotype

• apnea
  • increase in apnea incidence (39.5/hour) is observed compared to wild-type (5.8/hour)
  (MGI Ref ID J:135825)

• abnormal breathing pattern
  • at 4 months, respiratory pattern is qualitatively different than in wild-type; coefficient of variability of the respiratory rhythm is higher than in wild-type
  (MGI Ref ID J:135825)

behavior/neurological phenotype

• decreased anxiety-related response
  • mice show decrease anxiety-related behavior in open field assays than wild-type mice
  (MGI Ref ID J:135825)

• abnormal touch/ nociception
  • mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity
  (MGI Ref ID J:135825)

• abnormal cued conditioning behavior
  • percentage of time spent freezing is elevated relative to wild-type when re-exposure to a previously experienced cue
  (MGI Ref ID J:135825)

• abnormal social investigation
  • mice have altered social behavior and spend more time than wild-type animals interacting with an unfamiliar mouse or with a 'familiar' mouse that has been reintroduced into the cage
  (MGI Ref ID J:135825)

• increased vertical activity
  • increased number of vertical explorations is observed compared to wild-type; this is indicative of reduced anxiety
  (MGI Ref ID J:135825)

• abnormal contextual conditioning behavior
  • percentage of time spent freezing is elevated relative to wild-type when placed back into the conditioning chamber
  (MGI Ref ID J:135825)

mammalian phenotype

• growth/size/body region phenotype
  • Background Sensitivity - no size difference is detected relative to wild-type, unlike mice on the C57BL/6 background
  (MGI Ref ID J:135825)

• mortality/aging
  • Normal - no early mortality is observed in contrast to Mecp2-null animals
  (MGI Ref ID J:135825)

• behavior/neurological phenotype
  • Normal - mice do not show overt abnormalities like tremor or limb grasping
  (MGI Ref ID J:135825)
  • Background Sensitivity - no overt abnormalities are observed; mutants do not exhibit impaired coordination in a variety of tests measured
  (MGI Ref ID J:135825)

behavior/neurological phenotype

• increased stereotypic behavior
  • mice exhibit repetitive nose-poking behavior in the hole board test
  (MGI Ref ID J:228740)
  • Normal - however, mice do not exhibit motor deficits or alternations in acoustic startle response, partition, or cued memory tests, or differences in anxiety, pre-pulse inhibition, locomotor activity or long-term potentiation
  (MGI Ref ID J:228740)

• seizures
  • 50% of mice develop spontaneous epileptic seizures starting at 12 weeks
  (MGI Ref ID J:228740)

• tonic-clonic seizures
  • mice show generalized tonic clonic seizures during routine handling
  (MGI Ref ID J:228740)

mortality/aging

• premature death
  • 50% mortality by 29-35 weeks of age
  (MGI Ref ID J:228740)

nervous system phenotype

• seizures
  • 50% of mice develop spontaneous epileptic seizures starting at 12 weeks
  (MGI Ref ID J:228740)

• tonic-clonic seizures
  • mice show generalized tonic clonic seizures during routine handling
  (MGI Ref ID J:228740)

behavior/neurological phenotype

• decreased startle reflex
  • mice show a diminished acoustic startle response
  (MGI Ref ID J:228740)

• impaired cued conditioning behavior
  • mice develop progressive cued memory deficits, with the difference in freezing response to a conditioned tone becoming significantly different at 15 weeks of age
  (MGI Ref ID J:228740)

• abnormal gait
  • mice develop widely splayed hind limbs after 10 weeks and hind limb retraction after 15 weeks of age
  (MGI Ref ID J:228740)

• ataxia
  • Normal - however, mice do not exhibit seizures or stereotypical behaviors
  (MGI Ref ID J:228740)
  • mice develop progressive ataxia that is apparent at 6 weeks and worsens by 20 weeks
  (MGI Ref ID J:228740)

• impaired coordination
  • mice exhibit impaired performance of the marble-burying test, suggesting forelimb incoordination
  (MGI Ref ID J:228740)
  • mice exhibit reduced latency to fall in both the rotarod and dowel walk assays
  (MGI Ref ID J:228740)

• abnormal social investigation
  • mice spend more time interacting with novel partner mice in a social behavior assay
  (MGI Ref ID J:228740)

mortality/aging

• premature death
  • 50% mortality by 29-35 weeks of age
  (MGI Ref ID J:228740)

nervous system phenotype

• increased prepulse inhibition
  • 24 week-old mice show increased prepulse inhibition at 74 dB
  (MGI Ref ID J:166851)

behavior/neurological phenotype

• increased stereotypic behavior
  • mice show a 200% increase relative to control in number of holes explored with 2 or more sequential nose pokes in a holeboard assay
  (MGI Ref ID J:166851)

• abnormal social investigation
  • mice show increased social interaction with novel and familiar partners; time spent with novel partners is 60% higher than in controls in a 3-chamber assay
  (MGI Ref ID J:166851)

• abnormal nest building behavior
  • nest building is impaired
  (MGI Ref ID J:166851)

• decreased startle reflex
  • mice show impaired maximum acoustic startle response to 120dB
  (MGI Ref ID J:166851)

• impaired coordination
  • mice display more footslips, shorter latency to fall on wire, reduced number of side touches on dowel and shorter latency to fall from rotarod compared to controls
  (MGI Ref ID J:166851)

mammalian phenotype

• behavior/neurological phenotype
  • Normal - mice show similar grooming times to controls
  (MGI Ref ID J:166851)
  • Normal - mice exhibit intact olfactory recognition and habituation in response to a novel odorant at 11 weeks of age
  (MGI Ref ID J:166851)
  • Normal - time exhibiting aggressive behavior such as wrestling, tail-rattling, boxing, and mounting is similar to controls
  (MGI Ref ID J:166851)
  • Normal - at 12 weeks, mice have intact nociception demonstrated by a hot-plate or tail-flick assay
  (MGI Ref ID J:166851)
  • Normal - mice have a nonsignificant trend to reduced total distance traveled
  (MGI Ref ID J:166851)

• mortality/aging
  • Normal - mice survive to at least 80 weeks of age
  (MGI Ref ID J:166851)

• respiratory system phenotype
  • Normal - mice show no alterations in tidal volume or minute volume, and display no apneas
  (MGI Ref ID J:166851)

mammalian phenotype

• respiratory system phenotype
  • Normal - mice do not exhibit apneas
  (MGI Ref ID J:166851)

• mortality/aging
  • Normal - mice do not show premature lethality
  (MGI Ref ID J:166851)