Phenotypes for Tulp3 MGI:2654882 MGI Mouse

lethality throughout fetal growth and development, complete penetrance ( J:70060 )

• homozygous mutant embryos die by E14.5

• at E10.5, homozygous mutant embryos show hemorrhage into the telencephalic vesicles

increased embryonic neuroepithelium apoptosis ( J:70060 )

• at E8.5 and E9.5, homozygous mutant embryos show a 7-fold increase in apoptotic cell death in the ventral half of the neuroepithelium of the hindbrain, as shown by TUNEL assays

abnormal neural tube morphology ( J:70060 )

• starting at E9.5, homozygotes display neural tube defects (NTDs), with both the anterior midbrain and the hindbrain being open

• at E10.5, ~63% of homozygous mutant embryos show NTDs

open neural tube ( J:70060 )

• at E9.5, homozygous mutant embryos display an open and everted neural tube

spina bifida ( J:70060 )

• at E12.5 and E13.5, 37% of homozygous mutant embryos display spina bifida in the posterior neuropore (caudal zone)

abnormal hindbrain development ( J:70060 )

• at E9.5, the mutant hindbrain fails to elevate and forms a convex configuration instead of the V-shaped neural tube observed in wild-type embryos

abnormal midbrain morphology ( J:70060 )

• at E9.5, the rostral midbrain appears morphologically abnormal

abnormal hindbrain morphology ( J:70060 )

• at E9.5, the hindbrain neuroepithelium is not fused and the hindbrain appears morphologically abnormal

exencephaly ( J:70060 )

• at E12.5, 77% of homozygous mutant embryos display exencephaly resulting from NTDs, while the remaining embryos dot not exhibit NTDs

abnormal neuron specification ( J:70060 )

• at E9.5 and E10.5, the number of betaIII-tubulin positive cells is significantly reduced in the hindbrain of mutant embryos

abnormal dorsal root ganglion morphology ( J:70060 )

• at E12.5 and E13.5, mutant dorsal root ganglia are irregular in size and shape, and are sometimes not segmented

• however, no obvious somite patterning defect is detected

abnormal craniofacial development ( J:70060 )

• at E11.5-E12.5, all homozygous mutant embryos show abnormal craniofacial development, partly due to increased cell death in the neuroepithelium of the hindbrain

facial cleft ( J:70060 )

• at E12.5, mutant nasal prominencesare not completely merged with each other and to the maxillary prominences

internal hemorrhage ( J:70060 )

• at E10.5 to E13.5, homozygous mutant embryos display hemorrhagic sites in the brain and along the caudal neural tube

• however, vascular formation remains unaffected at E10.5

intracranial hemorrhage ( J:70060 )

• at E10.5, homozygous mutant embryos show hemorrhage into the telencephalic vesicles

anemia ( J:70060 )

• at E14.5, all homozygous mutant embryos lack circulating red blood cells

abnormal vertebrae morphology ( J:70060 )

• at E12.5 and E13.5, mutant vertebrae display a disorganized structure

increased apoptosis ( J:70060 )

• at E8.5 and E9.5, homozygous mutant embryos show a 7-fold increase in apoptotic cell death in the ventral half of the neuroepithelium of the hindbrain and in the caudal neural tube, as shown by TUNEL assays