Phenotypes Associated with This Genotype

Genotype
MGI:2166662

• Allelic Composition: Pax6^Sey/Pax6^Sey
• Genetic Background: Not Specified

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

mortality/aging

perinatal lethality, complete penetrance ( J:22316 )

• develop to term but die of breathing problems associated with the lack of a nose

vision/eye

anophthalmia ( J:22316 )

nervous system

abnormal neuron differentiation ( J:112802 )

• at E10.5 Nkx2.2+ V3 progenitors show dorsal expansion in the thoracic and cervical regions of the spinal cord

abnormal pretectal region morphology ( J:98539 )

• anterior pretectum is reduced but present and the posterior pretectum scarcely exists at E12.5

abnormal diencephalon morphology ( J:98539 )

• diencephalic structures were poor but present

small thalamus ( J:98539 )

• prethalamus and thalamus were reduced at E12.5

abnormal ventral interneuron 1 morphology ( J:87771 )

• E17.5 mutants show a greater than 90% reduction in the number of calbindin-positive cells close to the white matter in the spinal cord, indicating that Renshaw cells fail to develop

abnormal synaptic transmission ( J:87771 )

• no synaptic potentials are evoked by ventral root stimulation, indicating that Renshaw cell inputs to motor neurons are absent

respiratory system

abnormal nose morphology ( J:22316 )

• lack nose

respiratory failure ( J:22316 )

• due to lack of nose

• cause of perinatal death

craniofacial

abnormal nose morphology ( J:22316 )

• lack nose

cellular

abnormal neuron differentiation ( J:112802 )

• at E10.5 Nkx2.2+ V3 progenitors show dorsal expansion in the thoracic and cervical regions of the spinal cord

growth/size/body

abnormal nose morphology ( J:22316 )

• lack nose