Phenotypes Associated with This Genotype

Genotype
MGI:3775615

• Allelic Composition: Fkbp8^{Gt(OST287985)Lex}/Fkbp8^{Gt(OST287985)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

nervous system

increased neural tube apoptosis ( J:132031 )

• at E10, the number of apoptotic cell in the mutant neural tube increased dramatically

abnormal neural tube morphology ( J:132031 )

• dilated posterior neural tube is observed between E11.5 and E13.5

• from E14.5 onwards, the dilation subsides and the ski-covered defect contains protruded neural tissues from the thoracic to the lumbosacral region

• thin lumbar region neural tube

spina bifida ( J:132031 )

• all mutant fetuses present with an isolated spina bifida, which spans the thoracic and lumber region

• the neural canal from T2-5 to S4 in all mutants remained open and widens towards the caudal axis

disorganized dorsal root ganglion ( J:132031 )

abnormal spinal cord morphology ( J:132031 )

• at E10.5, an edema posterior to the forelimb bud and extending to the caudal region

increased spinal cord size ( J:132031 )

• at E15.5, the mutant spinal cord is significantly larger and disorganized

behavior/neurological

hindlimb paralysis ( J:132031 )

• although the mutant mice are not sufficiently different from there littermates at birth, they develop splayed hind limbs and lower body paralysis in later

growth/size/body

slow postnatal weight gain ( J:132031 )

• after birth, the mutants are smaller in size and the size difference relative to the unaffected littermates becomes increasingly evident with continued postnatal development

skeleton

abnormal vertebral arch development ( J:132031 )

• the cartilage primordia of the vertebral arches are not fused properly at E18.5, so that the spinal cord is covered only by the skin

vertebral fusion ( J:132031 )

• the vertebral centers are irregular and are fused between consecutive vertebrae

• the cartilaginous part of the lumber and sacral vertebrae is completely fused

• these vertebral abnormalities are completely absent in the cervical region

short vertebral column ( J:132031 )

embryo

abnormal dorsal-ventral axis patterning ( J:132031 )

• gene expression analysis revealed a pertubation of dorso-ventral patterning of the neural tube

abnormal neural tube morphology ( J:132031 )

• dilated posterior neural tube is observed between E11.5 and E13.5

• from E14.5 onwards, the dilation subsides and the ski-covered defect contains protruded neural tissues from the thoracic to the lumbosacral region

• thin lumbar region neural tube

spina bifida ( J:132031 )

• all mutant fetuses present with an isolated spina bifida, which spans the thoracic and lumber region

• the neural canal from T2-5 to S4 in all mutants remained open and widens towards the caudal axis

cellular

increased neural tube apoptosis ( J:132031 )

• at E10, the number of apoptotic cell in the mutant neural tube increased dramatically

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spina bifida		DOID:0080016		J:132031