Phenotypes associated with this allele

• Allele Symbol: Sphk2^tm1Rlp
• Allele Name: targeted mutation 1, Richard L Proia
• Allele ID: MGI:3611080
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sphk2^tm1Rlp/Sphk2^tm1Rlp	involves: 129S6/SvEvTac * C57BL/6	MGI:3611326
cx2	Sphk1^tm1Rlp/Sphk1^tm1Rlp Sphk2^tm1Rlp/Sphk2^tm1Rlp	involves: 129S6/SvEvTac * C57BL/6	MGI:3611327

Genotype
MGI:3611326

hm1

• Allelic Composition: Sphk2^tm1Rlp/Sphk2^tm1Rlp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:103755 )

• homozygotes are fertile, have normal longevity and histological analysis of major organs failed to reveal any abnormalities

Genotype
MGI:3611327

cx2

• Allelic Composition: Sphk1^tm1Rlp/Sphk1^tm1Rlp; Sphk2^tm1Rlp/Sphk2^tm1Rlp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:103755 )

• 17% of embryos are not viable at E11.5, 70% die by E12.5 and none survive past E13.5

cardiovascular system

abnormal blood vessel morphology ( J:103755 )

• remodeling defects of blood vessels in the head are apparent at E10.5. showing the formation of enlarged, dilated blood vessels and an aberrant anastomotic network

abnormal dorsal aorta morphology ( J:103755 )

• wall of the dorsal aorta is poorly developed at E11.5

abnormal vascular endothelial cell morphology ( J:103755 )

• endothelial cells are severely defective in all blood vessels in the mesenchymal region of the head and some contain vacuoles

abnormal vascular smooth muscle morphology ( J:103755 )

• the smooth muscle covering of the aorta is patchy and incomplete

hemorrhage ( J:103755 )

• severely affected embryos exhibit widespread hemorrhaging in areas other than the brain such as the spinal cord and mandible

hemopericardium ( J:103755 )

• seen in some embryos

intracranial hemorrhage ( J:103755 )

• exhibit cranial hemorrhage by E11.5 and E12.5, predominately in the cranial mesenchymal region

intraventricular hemorrhage ( J:103755 )

• hemorrhaging in the cranial mesenchymal region is sometimes accompanied by intraventricular hemorrhages

spinal hemorrhage ( J:103755 )

• seen in some embryos

muscle

abnormal vascular smooth muscle morphology ( J:103755 )

• the smooth muscle covering of the aorta is patchy and incomplete

nervous system

intracranial hemorrhage ( J:103755 )

• exhibit cranial hemorrhage by E11.5 and E12.5, predominately in the cranial mesenchymal region

intraventricular hemorrhage ( J:103755 )

• hemorrhaging in the cranial mesenchymal region is sometimes accompanied by intraventricular hemorrhages

spinal hemorrhage ( J:103755 )

• seen in some embryos

increased hindbrain apoptosis ( J:103755 )

• apoptosis is increased in the neuroepithelium of the rhombencephalon

increased midbrain apoptosis ( J:103755 )

• apoptosis is increased in the neuroepithelium of the mesencephalon

increased embryonic neuroepithelium apoptosis ( J:103755 )

• apoptosis is increased in the neuroepithelium of the mesencephalon and the rhombencephalon

abnormal embryonic neuroepithelium morphology ( J:103755 )

• embryos exhibit a very thin, poorly developed wall of neuroepithelium and an irregularly shaped neuroepithelial layer in the whole brain

decreased embryonic neuroepithelium thickness ( J:103755 )

• embryos exhibit a very thin, poorly developed wall of neuroepithelium

incomplete rostral neuropore closure ( J:103755 )

• impaired anterior neural tube closure

dilated brain ventricle ( J:103755 )

• ventricular dilation at E11.5

exencephaly ( J:103755 )

• seen in 18% of embryos at E10.5, 13% at E11.5 and in 20% at E12.5, however do not observe spina bifida

embryo

abnormal embryonic neuroepithelium morphology ( J:103755 )

• embryos exhibit a very thin, poorly developed wall of neuroepithelium and an irregularly shaped neuroepithelial layer in the whole brain

decreased embryonic neuroepithelium thickness ( J:103755 )

• embryos exhibit a very thin, poorly developed wall of neuroepithelium

incomplete rostral neuropore closure ( J:103755 )

• impaired anterior neural tube closure

homeostasis/metabolism

hemopericardium ( J:103755 )

• seen in some embryos

cellular

increased hindbrain apoptosis ( J:103755 )

• apoptosis is increased in the neuroepithelium of the rhombencephalon

increased midbrain apoptosis ( J:103755 )

• apoptosis is increased in the neuroepithelium of the mesencephalon

increased embryonic neuroepithelium apoptosis ( J:103755 )

• apoptosis is increased in the neuroepithelium of the mesencephalon and the rhombencephalon