Mouse Genome Informatics
hm
    Fkbp8tm1Kei/Fkbp8tm1Kei
involves: 129 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

embryogenesis
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF 119800 J:132961