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Phenotypes Associated with This Genotype
Genotype
MGI:3819790
Allelic
Composition
Fkbp8tm1Kei/Fkbp8tm1Kei
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp8tm1Kei mutation (1 available); any Fkbp8 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die soon after birth and are all dead by P1.5

nervous system
• neuron progenitors are abnormally distributed
• however, proliferation rates of neurons is normal
• at E14.5, axons of betaIII-tubulin+ neurons in the spinal cord project transversely over the midline instead of extending along the same side of the neural tube as in wild-type mice
• at E16.5, the neural tube is deformed with a thin epithelium and dilated central canal at the cervical level but is reduced in size at the sacral level
• the brain neural tube is malformed with enlarged lumen and aggregated neuroepithelium
• at E13.5, mice exhibit an aggregation of cells in the neuroepithelium
• in all mice
• the brain cortex is shrunken medially with dorsal overlap and cells in the brain are highly disorganized
• in some mice
• the neuroepithelium of the cerebrum is disorganized and exhibits an increase in neuron density compared to in wild-type mice
• the cerebellum appears immature and has fewer grooves than in wild-type mice
• at E13.5, ganglionic eminences are dysplastic
• dorsal root ganglia are rudimentary especially at the lumber-sacral level due to increased apoptosis

skeleton
• the lumbar vertebra exhibits open vertebrae with large vertebral bodies, short but stretched vertebral arches and crushed spinal cord

limbs/digits/tail
• some mice exhibit talipes varus
• in some mice

homeostasis/metabolism
• at birth
• at birth

behavior/neurological

growth/size/body
• at birth

respiratory system

embryo
• at E16.5, the neural tube is deformed with a thin epithelium and dilated central canal at the cervical level but is reduced in size at the sacral level
• the brain neural tube is malformed with enlarged lumen and aggregated neuroepithelium
• at E13.5, mice exhibit an aggregation of cells in the neuroepithelium
• in all mice

cellular
• neuron progenitors are abnormally distributed
• however, proliferation rates of neurons is normal
• at E14.5, axons of betaIII-tubulin+ neurons in the spinal cord project transversely over the midline instead of extending along the same side of the neural tube as in wild-type mice


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory