Phenotypes Associated with This Genotype

Genotype
MGI:3841029

• Allelic Composition: Pax2^1Neu/Pax2^1Neu
• Genetic Background: involves: 102 * C3H

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

nervous system

delayed neural tube closure ( J:37055 )

• at E6.5 in the midbrain-hindbrain region

abnormal brain development ( J:37055 )

• at E6.5, the presumptive brain region is shortened compared to in wild-type mice

absent midbrain-hindbrain boundary ( J:37055 )

• at E12.5, the midbrain-hindbrain boundary is absent

abnormal choroid plexus morphology ( J:37055 )

• the choroid plexus is fused to the superior colliculi unlike in wild-type mice

abnormal midbrain morphology ( J:37055 )

• at E14.5, the posterior mesencephalon is absent

abnormal corpora quadrigemina morphology ( J:37055 )

• the choroid plexus is fused to the superior colliculi unlike in wild-type mice

absent cerebellum ( J:37055 )

• at E14.5

abnormal vestibulocochlear ganglion morphology ( J:37055 )

• the presumptive cochlear portions of the anlagen of ganglion VIII exhibit increased apoptosis compared to in wild-type mice

exencephaly ( J:37055 )

• in some mice

abnormal optic nerve morphology ( J:37055 )

• the optic nerve contains much fewer axon fibers than in wild-type mice

hearing/vestibular/ear

abnormal inner ear morphology ( J:37055 )

• unlike in wild-type mice, an enlarged chamber is visible ventral to the semicircular canals continuing dorsally into the enlarged endolymphatic duct

abnormal inner ear development ( J:37055 )

• at E14.5, the anlagen of the cochlea is absent

absent semicircular canal ampulla ( J:37055 )

• in some mice

absent utricle ( J:37055 )

• in some mice

dilated endolymphatic duct ( J:37055 )

• enlarged

vision/eye

abnormal optic nerve morphology ( J:37055 )

• the optic nerve contains much fewer axon fibers than in wild-type mice

abnormal optic stalk morphology ( J:37055 )

• unlike in wild-type mice, the distal stalk is circular shaped

• the inner lumen of the stalk is absent and most fibers are located in the posterior wall of the stalk unlike in wild-type mice

• pigment cells are not confined to the dorsal-most regions of the stalk unlike in wild-type mice

renal/urinary system

abnormal kidney development ( J:37055 )

• at E14.5, tubules fail to form unlike in wild-type mice

abnormal metanephric mesenchyme morphology ( J:37055 )

• at E14.5, only a small anlagen of the presumptive metanephrogenic blastema is detectable unlike in wild-type mice

embryo

delayed neural tube closure ( J:37055 )

• at E6.5 in the midbrain-hindbrain region