Phenotypes Associated with This Genotype

Genotype
MGI:5451004

• Allelic Composition: Del(16Es2el-Ufd1l)217Bld/+
• Genetic Background: B6.129S7-Del(16Es2el-Ufd1l)217Bld

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

nervous system

abnormal neuronal migration ( J:201966 )

• abnormal distribution of interneurons indicates a defect in migration

• apparent delay in the migration of dentate precursors to the dentate gyrus subpial zone

• decrease in the chemotactic response to CXCL12 of cultured dentate gyrus derived cells

abnormal neuron proliferation ( J:201966 )

• decrease in proliferation of granule cells in the hippocampal dentate gyrus but not in the dentate ventricular zone or the fimbrio-dentate junction at E18.5

abnormal brain interneuron morphology ( J:201966 )

• distribution is altered at E18.5 with fewer found in the marginal zone and more found in the deep cortical plate

• decrease in the number PV+ interneurons in the medial prefrontal cortex at 1 month of age

decreased dentate gyrus size ( J:201966 )

• decrease in volume at P0

enhanced long-term potentiation ( J:190908 )

• in mature (16-20 weeks of age) but not in young (8-10 weeks of age) mice

• increased by over 200% in CA3 and CA1 pyramidal neurons in mature mice

• however, basal synaptic transmission is normal

cellular

abnormal neuronal migration ( J:201966 )

• abnormal distribution of interneurons indicates a defect in migration

• apparent delay in the migration of dentate precursors to the dentate gyrus subpial zone

• decrease in the chemotactic response to CXCL12 of cultured dentate gyrus derived cells

abnormal neuron proliferation ( J:201966 )

• decrease in proliferation of granule cells in the hippocampal dentate gyrus but not in the dentate ventricular zone or the fimbrio-dentate junction at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 22q11.2 deletion syndrome, distal		DOID:0060413	OMIM:611867	J:190908 , J:201966