Phenotypes Associated with This Genotype

Genotype
MGI:3628811

• Allelic Composition: Prkaca^tm1Gsm/Prkaca^tm1Gsm; Prkacb^tm1Gsm/Prkacb⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

Neural tube defects leading to spina bifida in Prkaca^tm1Gsm/Prkaca⁺ Prkacb^tm1Gsm/Prkacb^tm1Gsm and Prkaca^tm1Gsm/Prkaca^tm1Gsm Prkacb^tm1Gsm/Prkacb⁺ mice

mortality/aging

embryonic lethality, complete penetrance ( J:76765 )

• die by E14

nervous system

abnormal neural tube morphology ( J:76765 )

• 75% show spinal neural tube defects

• 25% show spinal neural tube defects and exencephaly

• E9.5-10.5 embryos exhibit a closed neural tube with an expanded alar plate and enlarged lumen in the thoracic and lumbar regions and an expanded neuroepithelium

• E10.5 or older embryos show a drastic increase in the expansion of the neural canal (enlarged lumen) and a neuroepithelium with a higher cell density

• exhibit an increase in apoptotic cells in the dorsal and lateral regions of the neural tube

abnormal embryonic neuroepithelium morphology ( J:76765 )

• E9.5-E10.5 embryos exhibit an expanded neuroepithelium with a higher cell density

spina bifida ( J:76765 )

• at the thoracic and lumbar regions

exencephaly ( J:76765 )

• 25% show spinal neural tube defects and exencephaly; exencephaly alone is not observed

abnormal neuron specification ( J:76765 )

• altered neuronal identity in the neural tube posterior to the forelimb buds leading to a ventralized neural tube (appearance of ventral neuronal progenitors in the dorsal neural tube and loss of dorsal cell types)

abnormal dorsal root ganglion morphology ( J:76765 )

• dorsal root ganglia form in E10.5 embryos but regress at E12.5

• significant increase in cell death in the dorsal root ganglia adjacent to the affected neural tube

disorganized dorsal root ganglion ( J:76765 )

• dorsal root ganglia are formed in E10.5 embryos but are disorganized

skeleton

abnormal vertebral column morphology ( J:76765 )

• spinal column defects are located in the thoracic and lumbar regions

abnormal spine curvature ( J:76765 )

• ventral curvature of the spine at the defective region

abnormal vertebral arch morphology ( J:76765 )

• vertebral arches fail to fuse at the dorsal midline between forelimbs and hindlimbs

embryo

abnormal neural tube morphology ( J:76765 )

• 75% show spinal neural tube defects

• 25% show spinal neural tube defects and exencephaly

• E9.5-10.5 embryos exhibit a closed neural tube with an expanded alar plate and enlarged lumen in the thoracic and lumbar regions and an expanded neuroepithelium

• E10.5 or older embryos show a drastic increase in the expansion of the neural canal (enlarged lumen) and a neuroepithelium with a higher cell density

• exhibit an increase in apoptotic cells in the dorsal and lateral regions of the neural tube

abnormal embryonic neuroepithelium morphology ( J:76765 )

• E9.5-E10.5 embryos exhibit an expanded neuroepithelium with a higher cell density

spina bifida ( J:76765 )

• at the thoracic and lumbar regions