Phenotypes associated with this allele

• Allele Symbol: S1pr3^tm1Rlp
• Allele Name: targeted mutation 1, Richard L Proia
• Allele ID: MGI:3620010
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	S1pr3^tm1Rlp/S1pr3^tm1Rlp	involves: 129S6/SvEvTac * C57BL/6	MGI:3621358
cx2	S1pr3^tm1Rlp/S1pr3^tm1Rlp S1pr2^tm1Rlp/S1pr2^tm1Rlp	involves: 129S6/SvEvTac * C57BL/6	MGI:3621359
cx3	S1pr1^tm1Rlp/S1pr1^tm1Rlp S1pr3^tm1Rlp/S1pr3^tm1Rlp	involves: 129S6/SvEvTac * C57BL/6	MGI:3621362
cx4	S1pr1^tm1Rlp/S1pr1^tm1Rlp S1pr3^tm1Rlp/S1pr3^tm1Rlp S1pr2^tm1Rlp/S1pr2^tm1Rlp	involves: 129S6/SvEvTac * C57BL/6	MGI:3621363

Genotype
MGI:3621358

hm1

• Allelic Composition: S1pr3^tm1Rlp/S1pr3^tm1Rlp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

cardiovascular system

cardiovascular system phenotype ( J:106055 )

N • no evidence of embryonic hemorrhaging

immune system

abnormal B cell physiology ( J:91161 )

• Marginal zone B cells of the spleen showed reduced responsiveness in chemotaxic tests

• localization of B cells to the marginal zone of the spleen was normal

• relocalization of B cells to lymphoid follicles of the spleen after FTY720 stimulation was normal

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:121165 )

N • at 6 months, homozygotes exhibit normal hearing, and do NOT display loss of spiral ganglion neurons, in contrast to single Edg5^tm1Rlp homozygotes and mice doubly homozygous for Edg3^tm1Rlp and Edg5^tm1Rlp

hematopoietic system

abnormal B cell physiology ( J:91161 )

• Marginal zone B cells of the spleen showed reduced responsiveness in chemotaxic tests

• localization of B cells to the marginal zone of the spleen was normal

• relocalization of B cells to lymphoid follicles of the spleen after FTY720 stimulation was normal

Genotype
MGI:3621359

cx2

• Allelic Composition: S1pr3^tm1Rlp/S1pr3^tm1Rlp; S1pr2^tm1Rlp/S1pr2^tm1Rlp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Hemorrhage in S1pr2^tm1Rlp/S1pr2^tm1Rlp S1pr3^tm1Rlp/S1pr3^tm1Rlp embryos

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:106055 )

• partial lethality after E13.5

• lethality is increased when crosses consist of double homozygous parents

prenatal lethality, incomplete penetrance ( J:121165 )

• ~50% of double homozygotes die in utero with angiogenic defects

cardiovascular system

abnormal vascular endothelial cell morphology ( J:106055 )

• abnormally thin endothelial cells are seen in many of the microvessels; however the aorta is normally covered by smooth muscle cells

hemorrhage ( J:106055 )

• many of the viable double homozygotes display hemorrhages beginning at E13.5

reproductive system

increased miscarriage rate ( J:106055 )

♀ • intercrosses of double homozygous parents result in most litters being spontaneously aborted

reduced fertility ( J:106055 )

• intercrosses of double homozygous parents result in most litters being spontaneously aborted with only a few small litters delivered

nervous system

cochlear ganglion degeneration ( J:121165 )

• at 6 months, double homozygotes display a striking bilateral loss of spiral ganglion neurons, not observed in single Edg3^tm1Rlp homozygotes

behavior/neurological

head tilt ( J:121165 )

• at 3 months, ~20% of surviving double homozygotes develop a pronounced head tilt

homeostasis/metabolism

skin edema ( J:106055 )

integument

skin edema ( J:106055 )

Genotype
MGI:3621362

cx3

• Allelic Composition: S1pr1^tm1Rlp/S1pr1^tm1Rlp; S1pr3^tm1Rlp/S1pr3^tm1Rlp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Bleeding phenotypes of mice carrying different combinations of deleted S1p receptors

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:106055 )

• die between E12.5 and E13.5

cardiovascular system

hemorrhage ( J:106055 )

• bleeding along the body and head at E12.5

limbs/digits/tail

abnormal limb morphology ( J:106055 )

• underdeveloped limbs at E12.5

Genotype
MGI:3621363

cx4

• Allelic Composition: S1pr1^tm1Rlp/S1pr1^tm1Rlp; S1pr3^tm1Rlp/S1pr3^tm1Rlp; S1pr2^tm1Rlp/S1pr2^tm1Rlp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Immature vascular network in S1pr1^tm1Rlp/S1pr1^tm1Rlp S1pr2^tm1Rlp/S1pr2^tm1Rlp and S1pr1^tm1Rlp/S1pr1^tm1Rlp S1pr2^tm1Rlp/S1pr2^tm1Rlp S1pr3^tm1Rlp/S1pr3^tm1Rlp embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:106055 )

• die between E10.5 and E11.5

cardiovascular system

abnormal angiogenesis ( J:106055 )

• at E10.5, vasculature in the head is less mature with fewer branches in the capillary network

hemorrhage ( J:106055 )

• bleeding along the body and head in 50% of embryos at E10.5