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Phenotypes Associated with This Genotype
Genotype
MGI:3663255
Allelic
Composition
S1pr2tm1Ajml/S1pr2tm1Ajml
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
S1pr2tm1Ajml mutation (0 available); any S1pr2 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• unexpectedly, homozygotes display normal brain cytoarchitecture, peripheral axon growth and neurological development, with no postnatal motor/sensory dysfunction or defects in hippocampal and neocortical development
• however, between 3 and 7 wks of age, homozygotes display spontaneous, intermittent sporadic seizures of variable timing occurring in clusters of 3 or more per hr during 1-4-day periods within the susceptible interval
• ~85% of seizures are characterized by 2-10-sec wild running episodes followed by 15-60-sec periods of freezing
• the vast majority of severely affected homozygotes survive the susceptible period and recover
• ~15% of seizures are characterized by 2-10 sec wild running episodes followed by tonic-clonic convulsions; 2% of these are lethal
• under current clamp, 10 of 14 mutant neocortical pyramidal neurons exhibit spontaneous paroxysmal depolarizing shifts and bursts of action potentials
• addition of GABAA receptor antagonist bicuculline methiodide increases burst frequency and results in a prolonged depolarization with repetitive action potentials in 4 of the cells
• in the presence of bicuculline, electrically evoked epileptiform depolarization responses are augmented in mutant cells relative to wild-type cells
• spontaneous seizures are accompanied by ictal-like EEG abnormalities and hyperexcitable neocortical pyramidal neurons
• homozygotes show significant increases in both the frequency and amplitude of spontaneous EPSCs
• the ampliture of electrically evoked EPSCs is also markedly increased in the absence of pharmacological or ionic enhancement

behavior/neurological
• unexpectedly, homozygotes display normal brain cytoarchitecture, peripheral axon growth and neurological development, with no postnatal motor/sensory dysfunction or defects in hippocampal and neocortical development
• however, between 3 and 7 wks of age, homozygotes display spontaneous, intermittent sporadic seizures of variable timing occurring in clusters of 3 or more per hr during 1-4-day periods within the susceptible interval
• ~85% of seizures are characterized by 2-10-sec wild running episodes followed by 15-60-sec periods of freezing
• the vast majority of severely affected homozygotes survive the susceptible period and recover
• ~15% of seizures are characterized by 2-10 sec wild running episodes followed by tonic-clonic convulsions; 2% of these are lethal

hematopoietic system
• increase in germinal center B cells in 9-12 month old mice before tumor formation
• increase in germinal center CD69+ T cells in 9-12 month old mice before tumor formation
• spleens show an increase in number of spontaneous germinal centers at 9-12 months of age before tumor formation
• spleens show an increase in size of spontaneous germinal centers at 9-12 months of age before tumor formation
• benign splenic marginal zone hyperplasia

immune system
• increase in germinal center B cells in 9-12 month old mice before tumor formation
• increase in germinal center CD69+ T cells in 9-12 month old mice before tumor formation
• spleens show an increase in number of spontaneous germinal centers at 9-12 months of age before tumor formation
• spleens show an increase in size of spontaneous germinal centers at 9-12 months of age before tumor formation
• benign splenic marginal zone hyperplasia

neoplasm
• mice develop clonal B-cell lymphomas with age, such that 50% of mice show neoplasm by 1.5-2 years of age
• tumors show features of germinal center-derived diffuse large B-cell lymphoma
• tumors are seen in mesenteric, submandibular, and mediastinal lymph nodes, in the spleen, and rarely in the liver and retroperitoneal soft tissue, with frequent involvement of multiple sites within individual mice
• a very low incidence of lung tumors is seen and these are adenocarcinomas or very large lung adenoma classified as carcinoma due to size

respiratory system
• a very low incidence of lung tumors is seen and these are adenocarcinomas or very large lung adenoma classified as carcinoma due to size

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
non-Hodgkin lymphoma DOID:0060060 OMIM:605027
J:154439


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory