Phenotypes Associated with This Genotype

Genotype
MGI:3842138

• Allelic Composition: Tulp3^hhkr/Tulp3^hhkr
• Genetic Background: involves: C3H/HeH * C57BL/6

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

nervous system

abnormal nervous system development ( J:147584 )

• mice exhibit widely splayed neural folds unlike wild-type mice

abnormal neural tube morphology ( J:147584 )

• the lumen of the lower spinal neural tube is expanded, particularly in the ventral half of the spinal cord, compared to in wild-type mice

• unlike in wild-type mice, some mice exhibit closed thoracolumbar neural tube that is not enclosed within the bony vertebral column

• mice exhibit a reduction in dorso-lateral bending with small dorso-lateral hinge in the sections immediately adjacent to the closed neural tube and straight neural folds are observed more caudally unlike in wild-type mice

• however, cell proliferation and apoptosis in the neuroepithelium is normal at E9.5

• expression of neural tube markers is ventralized compared to in wild-type mice

decreased embryonic neuroepithelium thickness ( J:147584 )

• reduced thickness

incomplete rostral neuropore closure ( J:147584 )

• at the 24 to 27 somite stage, 22% of mice fail to close at the forebrain-midbrain boundary unlike in wild-type mice

spina bifida cystica ( J:147584 )

• 65% of mice exhibit lumbosacral spina bifida aperta

spina bifida occulta ( J:147584 )

• in 8% of mice

abnormal caudal neuropore morphology ( J:147584 )

• from the 17-somite stage, posterior neuropores are enlarged compared to in wild-type mice

incomplete caudal neuropore closure ( J:147584 )

• at the 27-somite stage, 72% of mice exhibit open posterior neuropores compared to 25% of wild-type mice

exencephaly ( J:147584 )

• in 37% of mice

limbs/digits/tail

abnormal digit morphology ( J:147584 )

• some digits are bifurcation or duplication of digit one, or full or partial duplication of another digit unlike in wild-type mice

clinodactyly ( J:147584 )

• the first digit is bent backwards unlike in wild-type mice

polydactyly ( J:147584 )

• often mice exhibit preaxial polydactyly on fore and hind limbs with 6 or 7 digits unlike in wild-type mice

• 68% of mice exhibit polydactyly

skeleton

rib bifurcation ( J:147584 )

• at E18.5 in some mice

abnormal vertebrae development ( J:147584 )

• at E15.5, mice exhibit widely spaced cartilage primordial of the developing vertebrae unlike in wild-type mice

• at E18.5, vertebrae in the thoracolumbar region are splayed in some mice unlike in wild-type mice

spina bifida occulta ( J:147584 )

• in 8% of mice

homeostasis/metabolism

edema ( J:147584 )

• mice exhibit edema in the tissues surrounding the lower spinal neural tube unlike wild-type mice

• 58% of mice exhibit edema

embryo

abnormal neural tube morphology ( J:147584 )

• the lumen of the lower spinal neural tube is expanded, particularly in the ventral half of the spinal cord, compared to in wild-type mice

• unlike in wild-type mice, some mice exhibit closed thoracolumbar neural tube that is not enclosed within the bony vertebral column

• mice exhibit a reduction in dorso-lateral bending with small dorso-lateral hinge in the sections immediately adjacent to the closed neural tube and straight neural folds are observed more caudally unlike in wild-type mice

• however, cell proliferation and apoptosis in the neuroepithelium is normal at E9.5

• expression of neural tube markers is ventralized compared to in wild-type mice

decreased embryonic neuroepithelium thickness ( J:147584 )

• reduced thickness

incomplete rostral neuropore closure ( J:147584 )

• at the 24 to 27 somite stage, 22% of mice fail to close at the forebrain-midbrain boundary unlike in wild-type mice

spina bifida cystica ( J:147584 )

• 65% of mice exhibit lumbosacral spina bifida aperta

spina bifida occulta ( J:147584 )

• in 8% of mice

abnormal caudal neuropore morphology ( J:147584 )

• from the 17-somite stage, posterior neuropores are enlarged compared to in wild-type mice

incomplete caudal neuropore closure ( J:147584 )

• at the 27-somite stage, 72% of mice exhibit open posterior neuropores compared to 25% of wild-type mice

growth/size/body

spina bifida cystica ( J:147584 )

• 65% of mice exhibit lumbosacral spina bifida aperta