Mouse Genome Informatics
ht1
    Del(7Slx1b-Sept1)4Aam/+
involves: 129S7/SvEvBrd
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die between birth and weaning


Mouse Genome Informatics
ht2
    Del(7Slx1b-Sept1)4Aam/+
involves: 129S7/SvEvBrd * C57BL/6N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die between birth and weaning

behavior/neurological
• mice exhibit higher distance traveled, time spent walking, and time spent lingering compared with control mice
• after habituation, mice exhibit a second burst of activity (walking and rearing) unlike control mice
• mice spend less time resting than control mice
• mice are more active in the dark and light phases compared with control mice
• mice exhibit a higher ratio of light to dark activity compared with control mice
• mice exhibit extremely stereotypic ceiling-climbing unlike control mice with some mice becoming trapped on the ceiling for extensive periods

nervous system
• in the posterior, lateral regions compared with Dp(7Slx1b-Sept1)5Aam mice
• in the lateral hypothalamus

growth/size/body
• prior to weaning but not as adults

Mouse Models of Human Disease
OMIM IDRef(s)
Autism 209850 J:176335


Mouse Genome Informatics
ot3
    Del(7Slx1b-Sept1)4Aam/0
B6129S-Del(7Slx1b-Sept1)4Aam/J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 20% reduction in body weight at P2, P10, and P120

behavior/neurological
• in the elevated plus maze, mice spend less time exploring the open arms, indicating anxiety-like behavior
• in the open field, mice show a decrease in the frequency of entering the center, the middle, and outer parameter of the open field chamber during the first 5 minutes of exploration and a 35% decrease in the total distance traveled
• in a novel object recognition task, mice are impaired in ability to discriminate between novel and familiar objects, indicating recognition memory deficits
• however, exploration time during habituation phase is not different from wild-type mice

nervous system
• increase in the number of proliferating progenitors at early and mid-neurogenesis (E12.5 and E14.5) in both the ventricular zone and subventricular zone
• 30% decrease in calretinin-positive interneurons in the upper layers of the cortex
• modest reduction in brain size during early postnatal development, with a 7% difference by P10, which persists into adulthood
• reduced cortical area, specifically anteroposterior length and cortical length at P2 and p10
• 20-30% decrease in upper layer cortical projection neurons
• 11% increase in layer VI corticothalamic Tbr1+ projection neurons
• mice show enhanced neuronal progenitor proliferation and premature cell cycle exit, resulting in premature depletion of progenitor pools, and altering the number and frequency of neurons ultimately populating cortical lamina
• mice show a 20% decrease in the frequency of Brn1+ neurons generated at E14.5
• progenitors in the telencephalon show premature cell cycle exit during mid-neurogenesis
• mice exhibit a decrease in basal progenitor number and generation, resulting in premature progenitor pool depletion
• generation and number of Tbr2+ intermediate progenitor cells are decreased
• the number of Pax6+Tbr2+ progenitors is reduced by 40% and the number of transitioning Pax6+Tbr2+ progenitors is reduced
• the number of Tbr2+ intermediate progenitor cells in the cortical proliferation zones is reduced by nearly 20%
• reduction in the number of Pax6+ radial glia

cellular
• mice exhibit a decrease in basal progenitor number and generation, resulting in premature progenitor pool depletion
• generation and number of Tbr2+ intermediate progenitor cells are decreased
• the number of Pax6+Tbr2+ progenitors is reduced by 40% and the number of transitioning Pax6+Tbr2+ progenitors is reduced
• the number of Tbr2+ intermediate progenitor cells in the cortical proliferation zones is reduced by nearly 20%
• reduction in the number of Pax6+ radial glia
• increase in the number of proliferating progenitors at early and mid-neurogenesis (E12.5 and E14.5) in both the ventricular zone and subventricular zone

Mouse Models of Human Disease
OMIM IDRef(s)
Autism 209850 J:219859