Mouse Genome Informatics
cn1
    Mecp2tm1Bird/Y
Tg(dlx6a-cre)1Mekk/0

involves: 129P2/OlaHsd * 129S6/SvEvTac * CD-1 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• mice survive to at least 80 weeks of age (J:166851)

behavior/neurological
N
• mice show similar grooming times to controls (J:166851)
• mice have a nonsignificant trend to reduced total distance traveled (J:166851)
• time exhibiting aggressive behavior such as wrestling, tail-rattling, boxing, and mounting is similar to controls (J:166851)
• mice exhibit intact olfactory recognition and habituation in response to a novel odorant at 11 weeks of age (J:166851)
• at 12 weeks, mice have intact nociception demonstrated by a hot-plate or tail-flick assay (J:166851)
• mice show impaired maximum acoustic startle response to 120dB (J:166851)
• 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 (J:166851)
• mice show a 200% increase relative to control in number of holes explored with 2 or more sequential nose pokes in a holeboard assay (J:166851)
• nest building is impaired (J:166851)
• 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 (J:166851)

nervous system
• 24 week-old mice show increased prepulse inhibition at 74 dB (J:166851)

respiratory system
N
• mice show no alterations in tidal volume or minute volume, and display no apneas (J:166851)


Mouse Genome Informatics
cn2
    Mecp2tm1Bird/Y
Tg(Slc32a1-cre)2.1Hzo/0

involves: 129P2/OlaHsd * 129S6/SvEvTac * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• around 50% of mutant mice die by 26 weeks (J:166851)

growth/size/body
• mice exhibit a period of rapid weight loss preceding death; initial weight gain is normal (J:166851)

behavior/neurological
N
• 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 (J:166851)
• mice display no anxiety-like phenotypes, indicating that hypoactivity or altered social behavior does not result from increased anxiety (J:166851)
• animals show no increased interest in a novel object than controls at 11-12 weeks (J:166851)
• 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 (J:166851)
• 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 (J:166851)
• 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 (J:166851)
• mice have impaired maximum acoustic startle response than controls to 120 dB at 8 weeks (J:166851)
• after 5 weeks of age, mice show repetitive behavior such as hindlimb clasping (J:166851)
• at 5 weeks, mice show increased numbers of footslips on a wire grid and impaired dowel walk at 9 weeks (J:166851)
• mice have a shorter latency to fall on an accelerating rotarod at 19 weeks (J:166851)
• at 9 weeks, mice show decreased time wire hang time prior to falling and reduce forelimb grip strength compared to controls (J:166851)
• there is a trend to reduced activity observed at 12 weeks, while 19-week old mice are hypoactive (J:166851)
• 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 (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 (J:166851)
• mice are poor nest builders, possibly due to social behavior alterations or to forelimb apraxia at 13 weeks (J:166851)
• 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 (J:166851)

nervous system
N
• miniature excitatory postsynaptic current quantal size and frequency are similar to controls (J:166851)
• paired pulse ratio is not significantly altered in neurons (J:166851)
• non-seizure hyperexcitability discharges are frequently observed in cultured neurons, but no electrographic seizures are seen (J:166851)
• impaired LTP induced by theta-burst stimulation of Schaffer collaterals is detected (J:166851)
• amplitude and charge of mIPSCs from layer 2/3 pyramidal neurons of the somatosensory cortex are reduced; no change in frequency is observed (J:166851)
• similar results are observed in autaptic GABAergic striatal neurons (J:166851)
• mice show an increased prepulse inhibition at 78 and 82 dB prepulses at 8 weeks (J:166851)

respiratory system
• coinciding with weight loss, mice display a 42% reduction in tidal volume (and 45% reduction in minute volume) (J:166851)
• severe respiratory dysfunction is coincident with weight loss (J:166851)
• mice display frequent apneas of greater than 0.4 second durations, coincident with weight loss (J:166851)


Mouse Genome Informatics
cn3
    Mecp2tm1Bird/Y
Tg(Nes-cre)1Kln/0

involves: 129P2/OlaHsd * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
(J:67910)

behavior/neurological
(J:67910)
(J:67910)
• develop a stiff, uncoordinated gait (J:67910)

craniofacial
• frequently exhibit uneven wearing of the teeth (J:67910)

endocrine/exocrine glands
(J:67910)

growth/size/body
• frequently exhibit uneven wearing of the teeth (J:67910)

reproductive system
(J:67910)

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:67910


Mouse Genome Informatics
ot4
    Mecp2tm1Bird/Y
(129S6.129P2-Mecp2tm1Bird x C57BL/6)F1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• no early mortality is observed in contrast to Mecp2-null animals (J:135825)

growth/size/body
• 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 (J:135825)

behavior/neurological
• mice have a decreased startle response relative to wild-type (J:135825)
• Background Sensitivity: mice display impaired performance in coordination tasks like the rotating rod, hanging wire, and dowel walking tests (J:135825)
• mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity (J:135825)
• mice show increased latency in the hot plate assay (J:135825)
• 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 (J:135825)
• 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 (J:135825)

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

integument
• mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity (J:135825)
• mice show increased latency in the hot plate assay (J:135825)

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:135825


Mouse Genome Informatics
ot5
    Mecp2tm1Bird/Y
(129S6.129P2-Mecp2tm1Bird x FVB/N)F1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• no early mortality is observed in contrast to Mecp2-null animals (J:135825)

behavior/neurological
N
• Background Sensitivity: no overt abnormalities are observed; mutants do not exhibit impaired coordination in a variety of tests measured (J:135825)
• mice do not show overt abnormalities like tremor or limb grasping (J:135825)
• mice show decrease anxiety-related behavior in open field assays than wild-type mice (J:135825)
• percentage of time spent freezing is elevated relative to wild-type when placed back into the conditioning chamber (J:135825)
• percentage of time spent freezing is elevated relative to wild-type when re-exposure to a previously experienced cue (J:135825)
• increased number of vertical explorations is observed compared to wild-type; this is indicative of reduced anxiety (J:135825)
• mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity (J:135825)
• 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 (J:135825)

nervous system
• mice show decreased prepulse inhibition compared to wild-type (J:135825)

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

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

integument
• mutants exhibit deficit in pain recognition rather than significant defect in pain sensitivity (J:135825)

Mouse Models of Human Disease
OMIM IDRef(s)
Rett Syndrome; RTT 312750 J:135825


Mouse Genome Informatics
ot6
    Mecp2tm1Bird/Y
involves: 129P2/OlaHsd * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• mice do not show premature lethality (J:166851)

respiratory system
N
• mice do not exhibit apneas (J:166851)