Mouse Genome Informatics
hm1
    Cntnap2tm1Pele/Cntnap2tm1Pele
B6.129-Cntnap2tm1Pele
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
N
• no differences are seen in the light-dark exploration test between mutants and wild-type mice (J:177110)
• mutants treated with the drug Risperidone exhibit rescue of the hyperactivity, repetitive behavior/perseveration and nesting deficits (J:177110)
• mutants spend almost 3 times more time grooming than wild-type mice
• mutants perform similarly to wild-type mice in the Morris water maze probe trials, however in a classic reversal task using the Morris water maze, mutants show impaired learning of the new location of the platform and perform poorly in the probe test
• mutants perform better than wild-type mice on the rotorod
• mutants show greater locomotor activity than wild-type mice in the open field test
• mutants treated with the drug Risperidone exhibit rescue of the hyperactivity
• in the spontaneous alternation T maze test, mutants show higher number of no alternations in a standard 10 trial test, indicating preservation
• mutants treated with the drug Risperidone exhibit rescue of the repetitive behavior/perseveration
• mutants exhibit hyperreactivity to thermal sensory stimuli
• however, no differences seen in the acoustic startle response or prepulse inhibition
• mutants are impaired in nest-building behavior, scoring less than half of the wild-type criterion
• mutants treated with the drug Risperidone exhibit rescue of the nesting deficits
• in a juvenile play test, mutants at P21 spend less time interacting with each other and instead show increased repetitive behaviors such as grooming and digging
• in a three-chamber social interaction test in adults, mutants do not show a preference for the cup with a mouse as seen in wild-type mice
• mutants emit a lower number of ultrasonic calls than wild-type mice at all ages
• mutants older than 6 months of age commonly exhibit spontaneous seizures
• seizures are induced by mild stressors during routine handling

integument
• mutants exhibit hyperreactivity to thermal sensory stimuli
• however, no differences seen in the acoustic startle response or prepulse inhibition

nervous system
• mutants older than 6 months of age commonly exhibit spontaneous seizures
• seizures are induced by mild stressors during routine handling
• mutants exhibit a reduction in parvalbumin+ interneurons in the hippocampus
• mutants exhibit a decrease in the number of GABAergic interneurons in all laminae and in the striatum
• ectopic neurons are seen in the corpus callosum of mutants at P14; ectopic neurons are seen through adulthood
• reactive astrocytosis is seen throughout the hippocampus after onset of seizures, especially in the hilus
• however, neuronal loss is not seen in the hippocampus
• at 8 months of age, freely moving mutants exhibit generalized interictal spike discharges during slow-wave sleep
• mutants exhibit reduced cortical neuronal synchrony as indicated by two-photon calcium imaging of layer II/III neurons from somatosensory cortex showing that neuronal firing pattern is highly asynchronous compared to wild-type mice
• however, neither the average firing amplitude nor the average firing rate are changed, suggesting that the defect is due to a network dysfunction rather than abnormalities in neuronal activity or conduction per se
• ectopic neurons are seen in the corpus callosum of mutants at P14
• mutants exhibit abnormal migration of cortical projection neurons as evidenced by the higher numbers of CUX1+ cells in deep cortical layers

taste/olfaction
• mutants perform better than wild-type mice in the buried food test, indicating better olfaction

cellular
• ectopic neurons are seen in the corpus callosum of mutants at P14
• mutants exhibit abnormal migration of cortical projection neurons as evidenced by the higher numbers of CUX1+ cells in deep cortical layers

Mouse Models of Human Disease
OMIM IDRef(s)
Autism 209850 J:177110
Cortical Dysplasia-Focal Epilepsy Syndrome 610042 J:177110


Mouse Genome Informatics
hm2
    Cntnap2tm1Pele/Cntnap2tm1Pele
involves: 129S1/Sv * 129X1/SvJ * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• smaller size at birth but size is normal by 2-3 months of age

nervous system
N
• though juxtaparanodal clustering of K+ channels was disrupted, nerve conduction was normal and mice did not exhibit any neuroglogical or behavioral abnormalities (J:85502)