Phenotypes Associated with This Genotype

Genotype
MGI:5634817

• Allelic Composition: Del(7Slx1b-Sept1)4Aam/0
• Genetic Background: B6129S-Del(7Slx1b-Sept1)4Aam/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

decreased body weight ( J:219859 )

• 20% reduction in body weight at P2, P10, and P120

behavior/neurological

abnormal object recognition memory ( J:219859 )

• 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

increased anxiety-related response ( J:219859 )

• 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

nervous system

increased neuronal precursor proliferation ( J:219859 )

• 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

abnormal brain interneuron morphology ( J:219859 )

• 30% decrease in calretinin-positive interneurons in the upper layers of the cortex

decreased brain size ( J:219859 )

• modest reduction in brain size during early postnatal development, with a 7% difference by P10, which persists into adulthood

decreased brain weight ( J:219859 )

abnormal cerebral cortex morphology ( J:219859 )

• reduced cortical area, specifically anteroposterior length and cortical length at P2 and p10

decreased cerebral cortex pyramidal cell number ( J:219859 )

• 20-30% decrease in upper layer cortical projection neurons

increased cerebral cortex pyramidal cell number ( J:219859 )

• 11% increase in layer VI corticothalamic Tbr1+ projection neurons

abnormal nervous system development ( J:219859 )

• 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

decreased radial glial cell number ( J:219859 )

• reduction in the number of Pax6+ radial glia

abnormal neuronal precursor cell number ( J:219859 )

• 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%

cellular

decreased radial glial cell number ( J:219859 )

• reduction in the number of Pax6+ radial glia

increased neuronal precursor proliferation ( J:219859 )

• 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		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:219859