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Phenotypes Associated with This Genotype
Genotype
MGI:3628809
Allelic
Composition
Prkacatm1Gsm/Prkaca+
Prkacbtm1Gsm/Prkacbtm1Gsm
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkacatm1Gsm mutation (1 available); any Prkaca mutation (22 available)
Prkacbtm1Gsm mutation (0 available); any Prkacb mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neural tube defects leading to spina bifida in Prkacatm1Gsm/Prkaca+ Prkacbtm1Gsm/Prkacbtm1Gsm and Prkacatm1Gsm/Prkacatm1Gsm Prkacbtm1Gsm/Prkacb+ mice

mortality/aging
• if mutant pups are kept with their parents, they are rejected and left out of the litter and die, probably from starvation

nervous system
• increase in apoptotic cells in the dorsal and lateral regions of the neural tube
• 100% show spinal neural tube defects
• 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
• E9.5-E10.5 embryos exhibit an expanded neuroepithelium with a higher cell density
• at the thoracic and lumbar regions
• 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)
• 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
• dorsal root ganglia are formed in E10.5 embryos but are disorganized

skeleton
• spinal column defects are located in the thoracic and lumbar regions
• ventral curvature of the spine at the defective region
• vertebral arches fail to fuse at the dorsal midline between forelimbs and hindlimbs

embryo
• 100% show spinal neural tube defects
• 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
• E9.5-E10.5 embryos exhibit an expanded neuroepithelium with a higher cell density
• at the thoracic and lumbar regions

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory