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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sphk2tm1Rlp
targeted mutation 1, Richard L Proia
MGI:3611080
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sphk2tm1Rlp/Sphk2tm1Rlp involves: 129S6/SvEvTac * C57BL/6 MGI:3611326
cx2
Sphk1tm1Rlp/Sphk1tm1Rlp
Sphk2tm1Rlp/Sphk2tm1Rlp
involves: 129S6/SvEvTac * C57BL/6 MGI:3611327


Genotype
MGI:3611326
hm1
Allelic
Composition
Sphk2tm1Rlp/Sphk2tm1Rlp
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sphk2tm1Rlp mutation (3 available); any Sphk2 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygotes are fertile, have normal longevity and histological analysis of major organs failed to reveal any abnormalities




Genotype
MGI:3611327
cx2
Allelic
Composition
Sphk1tm1Rlp/Sphk1tm1Rlp
Sphk2tm1Rlp/Sphk2tm1Rlp
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sphk1tm1Rlp mutation (2 available); any Sphk1 mutation (30 available)
Sphk2tm1Rlp mutation (3 available); any Sphk2 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 17% of embryos are not viable at E11.5, 70% die by E12.5 and none survive past E13.5

cardiovascular system
• 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
• wall of the dorsal aorta is poorly developed at E11.5
• endothelial cells are severely defective in all blood vessels in the mesenchymal region of the head and some contain vacuoles
• the smooth muscle covering of the aorta is patchy and incomplete
• severely affected embryos exhibit widespread hemorrhaging in areas other than the brain such as the spinal cord and mandible
• seen in some embryos
• exhibit cranial hemorrhage by E11.5 and E12.5, predominately in the cranial mesenchymal region
• hemorrhaging in the cranial mesenchymal region is sometimes accompanied by intraventricular hemorrhages
• seen in some embryos

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

nervous system
• exhibit cranial hemorrhage by E11.5 and E12.5, predominately in the cranial mesenchymal region
• hemorrhaging in the cranial mesenchymal region is sometimes accompanied by intraventricular hemorrhages
• seen in some embryos
• apoptosis is increased in the neuroepithelium of the rhombencephalon
• apoptosis is increased in the neuroepithelium of the mesencephalon
• apoptosis is increased in the neuroepithelium of the mesencephalon and the rhombencephalon
• embryos exhibit a very thin, poorly developed wall of neuroepithelium and an irregularly shaped neuroepithelial layer in the whole brain
• embryos exhibit a very thin, poorly developed wall of neuroepithelium
• impaired anterior neural tube closure
• ventricular dilation at E11.5
• 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
• embryos exhibit a very thin, poorly developed wall of neuroepithelium and an irregularly shaped neuroepithelial layer in the whole brain
• embryos exhibit a very thin, poorly developed wall of neuroepithelium
• impaired anterior neural tube closure

homeostasis/metabolism
• seen in some embryos

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





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory