Phenotypes Associated with This Genotype

Genotype
MGI:3688254

• Allelic Composition: Isl1^tm1Tmj/Isl1^tm1Tmj
• Genetic Background: either: 129S1/Sv-Isl1^tm1Tmj or (involves: 129S1/Sv * C57BL/6J)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:31131 )

• die by E11.5

growth/size/body

decreased embryo size ( J:31131 )

• embryos are smaller by E9-9.5

embryo

embryonic growth arrest ( J:31131 )

• E10.5 embryos show no advance in development compared with E9.5, indicating arrested development soon after E9.5

decreased embryo size ( J:31131 )

• embryos are smaller by E9-9.5

decreased embryonic neuroepithelium thickness ( J:31131 )

• exhibit marked thinning of the neuroepithelium in the ventral neural tube

embryo tissue necrosis ( J:31131 )

• embryos are necrotic at E11.5

nervous system

decreased embryonic neuroepithelium thickness ( J:31131 )

• exhibit marked thinning of the neuroepithelium in the ventral neural tube

abnormal motor neuron morphology ( J:31131 )

• motor neuron differentiation does not occur at E9.5 in the hindbrain and spinal cord, however notochord, floorplate and neural tube differentiation appear normal

• isolated neural tube segments do not generate motor neurons in culture, indicating an inability, not a delay, of neural progenitors to generate motor neurons

• exhibit a marked increase in the incidence of apoptotic cell death in the ventral neural tube, the region in which motor neurons normally are generated

• exhibit an approximately 73% decrease in mitotic cells in the ventral neural tube, indicating decreased cell proliferation of cells that give rise to motor neurons

abnormal spinal cord interneuron morphology ( J:31131 )

• engrailed1 positive interneurons are absent in the neural tube of 25 somite stage embryos

• cultured cervical neural tube explants to not form interneurons, indicating a failure, and not a delay, of interneuron differentiation

cardiovascular system

abnormal dorsal aorta morphology ( J:31131 )

• dorsal aorta formation is disrupted at E9.5-10.5

abnormal vascular endothelial cell morphology ( J:31131 )

• exhibit abnormalities in the organization of the vascular endothelium and its surrounding mesenchyme at E9.5-10.5