Phenotypes Associated with This Genotype

Genotype
MGI:3611325

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

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

Bleeding phenotypes of mice carrying different combinations of deleted S1p receptors

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:71961 , J:106055 )

• die between E12.5 and E14.5; no surviving mutants past E14.5 (J:71961)

embryo

abnormal visceral yolk sac morphology ( J:71961 )

• yolk sacs display progressive edema and normal vasculature but with less blood

cardiovascular system

abnormal blood vessel morphology ( J:71961 )

• exhibit a defect in blood vessel maturation, however vasculogenesis and angiogenesis appear normal

• small vessels in the forebrain are dilated

abnormal vascular endothelial cell morphology ( J:71961 )

• endothelial cell body is very thin and in some areas, fragmented, resulting in a discontinuous endothelial cell layer

• endothelial cell nuclei of capillaries are abnormally rounded and enlarged

abnormal pericyte morphology ( J:71961 )

• reduction of pericytes in vessels and absence of capillary pericytes

abnormal vascular smooth muscle morphology ( J:71961 )

• exhibit vascular smooth muscle defects, with aortae and intracerebral arteries covered only ventrally by poorly organized vascular smooth muscle cells which are not present along the dorsal surface, however muscular layers in the gastrointestinal tract and bronchial tree are normal

vascular smooth muscle hypoplasia ( J:71961 )

pericardial edema ( J:71961 )

• seen at E12.5 and E13.5

enlarged pericardium ( J:71961 )

hemorrhage ( J:71961 , J:106055 )

• intraembryonic bleeding is evident at E12.5 and is widespread at E13.5 (J:71961)

• bleeding along the body and head at E12.5 (J:106055)

muscle

abnormal vascular smooth muscle morphology ( J:71961 )

• exhibit vascular smooth muscle defects, with aortae and intracerebral arteries covered only ventrally by poorly organized vascular smooth muscle cells which are not present along the dorsal surface, however muscular layers in the gastrointestinal tract and bronchial tree are normal

vascular smooth muscle hypoplasia ( J:71961 )

homeostasis/metabolism

edema ( J:71961 )

• severe edema throughout the body at E13.5

pericardial edema ( J:71961 )

• seen at E12.5 and E13.5

limbs/digits/tail

abnormal limb morphology ( J:71961 , J:106055 )

• limbs are underdeveloped and rounded with areas of bleeding (J:71961)

cellular

impaired fibroblast cell migration ( J:71961 )

• fibroblasts do not display a significant migratory response to sphingosine-1-phosphate as in wild-type