Phenotypes associated with this allele

• Allele Symbol: Fkbp8^tm1Kei
• Allele Name: targeted mutation 1, Keiichi I Nakayama
• Allele ID: MGI:3777160
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fkbp8^tm1Kei/Fkbp8^tm1Kei	involves: 129P2/OlaHsd	MGI:3793287
hm2	Fkbp8^tm1Kei/Fkbp8^tm1Kei	involves: 129P2/OlaHsd * C57BL/6J	MGI:3819790

Genotype
MGI:3793287

hm1

• Allelic Composition: Fkbp8^tm1Kei/Fkbp8^tm1Kei
• Genetic Background: involves: 129P2/OlaHsd

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

cellular

abnormal cell physiology ( J:132541 )

• proteasome activity in the membrane fraction of mutant MEFs is reduced compared to wild-type MEFs

Genotype
MGI:3819790

hm2

• Allelic Composition: Fkbp8^tm1Kei/Fkbp8^tm1Kei
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

neonatal lethality, complete penetrance ( J:132961 )

• mice die soon after birth and are all dead by P1.5

nervous system

abnormal neuron differentiation ( J:132961 )

• 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

abnormal neural tube morphology ( J:132961 )

• 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

abnormal embryonic neuroepithelium morphology ( J:132961 )

• at E13.5, mice exhibit an aggregation of cells in the neuroepithelium

spina bifida ( J:132961 )

• in all mice

abnormal brain morphology ( J:132961 )

• the brain cortex is shrunken medially with dorsal overlap and cells in the brain are highly disorganized

abnormal thalamus morphology ( J:132961 )

abnormal cerebral hemisphere morphology ( J:132961 )

• the neuroepithelium of the cerebrum is disorganized and exhibits an increase in neuron density compared to in wild-type mice

abnormal cerebellum morphology ( J:132961 )

• the cerebellum appears immature and has fewer grooves than in wild-type mice

abnormal embryonic/fetal subventricular zone morphology ( J:132961 )

• at E13.5, ganglionic eminences are dysplastic

exencephaly ( J:132961 )

• in some mice

abnormal dorsal root ganglion morphology ( J:132961 )

• dorsal root ganglia are rudimentary especially at the lumber-sacral level due to increased apoptosis

abnormal spinal cord morphology ( J:132961 )

skeleton

abnormal rib morphology ( J:132961 )

scoliosis ( J:132961 )

abnormal lumbar vertebrae morphology ( J:132961 )

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

abnormal vertebral arch morphology ( J:132961 )

limbs/digits/tail

abnormal limb morphology ( J:132961 )

• at birth

clubfoot ( J:132961 )

• some mice exhibit talipes varus

curly tail ( J:132961 )

• in some mice

homeostasis/metabolism

cyanosis ( J:132961 )

• at birth

dehydration ( J:132961 )

• at birth

behavior/neurological

abnormal suckling behavior ( J:132961 )

growth/size/body

decreased body size ( J:132961 )

• at birth

respiratory system

respiratory distress ( J:132961 )

• at birth

embryo

abnormal neural tube morphology ( J:132961 )

• 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

abnormal embryonic neuroepithelium morphology ( J:132961 )

• at E13.5, mice exhibit an aggregation of cells in the neuroepithelium

spina bifida ( J:132961 )

• in all mice

cellular

abnormal neuron differentiation ( J:132961 )

• 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		DO ID	OMIM ID(s)	Ref(s)
clubfoot		DOID:11836	OMIM:119800	J:132961