Phenotypes associated with this allele

• Allele Symbol: Stim1^{Gt(RRS558)Byg}
• Allele Name: gene trap RRS558, BayGenomics
• Allele ID: MGI:3800290
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stim1^Gt(RRS558)Byg/Stim1^Gt(RRS558)Byg	involves: 129P2/OlaHsd	MGI:4453868
hm2	Stim1^Gt(RRS558)Byg/Stim1^Gt(RRS558)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:3802513

Genotype
MGI:4453868

hm1

• Allelic Composition: Stim1^{Gt(RRS558)Byg}/Stim1^{Gt(RRS558)Byg}
• Genetic Background: involves: 129P2/OlaHsd

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

nervous system

abnormal neuron physiology ( J:159604 )

• neurons exhibit alternation of capacitive calcium ion entry compared with wild-type mice

• however, neurons exhibit normal basal calcium ion levels and response to oxygen-glucose deprivation

Genotype
MGI:3802513

hm2

• Allelic Composition: Stim1^{Gt(RRS558)Byg}/Stim1^{Gt(RRS558)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:137364 )

• about 70% of homozygotes die within a few hours of birth

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:137364 )

N • activated partial thromboplastin time is normal

abnormal platelet activation ( J:137364 )

• GP6 induced integrin activation is impaired

• reduced platelet adhesion when transplanted into lethally irradiated C57BL/6 mice

• platelets are released from the surface of experimentally induced thrombi when bone marrow is transplanted into lethally irradiated C57BL/6 mice

decreased platelet aggregation ( J:137364 )

• ex-vivo platelet aggregation in response to ADP, thrombin, and V46619 is normal

• aggregation response to collagen CRP, and convulxin is severely diminished

• G-protein coupled agonists of aggregation continue to function

abnormal thrombosis ( J:137364 )

• three dimensional growth of thrombi markedly impaired when bone marrow transplanted to lethally irradiated C57BL/6 mice

• 81% reduction in thrombus volume

• 42% reduction in thrombus surface area covered by platelets

• after mesenteric artery injury, 17 minutes before first 20 micron thrombus is formed compared to 10 minutes in controls

• essentially no stable thrombi are formed

cyanosis ( J:137364 )

• marked cyanosis before death

abnormal calcium ion homeostasis ( J:137364 )

• store-operated calcium entry (SOCE) is abnormal

• thapsigarin induced calcium store release is reduced by 60%

• subsequent SOC influx almost completely absent

growth/size/body

postnatal growth retardation ( J:137364 )

• surviving homozygotes show marked growth retardation

• are about 50% of the size of wild-type littermates at 3 and 7 weeks of age

hematopoietic system

hematopoietic system phenotype ( J:137364 )

N • RBC count, hematocrit, platelet counts, cell surface markers, and volume all normal

abnormal platelet activation ( J:137364 )

• GP6 induced integrin activation is impaired

• reduced platelet adhesion when transplanted into lethally irradiated C57BL/6 mice

• platelets are released from the surface of experimentally induced thrombi when bone marrow is transplanted into lethally irradiated C57BL/6 mice

decreased platelet aggregation ( J:137364 )

• ex-vivo platelet aggregation in response to ADP, thrombin, and V46619 is normal

• aggregation response to collagen CRP, and convulxin is severely diminished

• G-protein coupled agonists of aggregation continue to function

cardiovascular system

cardiovascular system phenotype ( J:137364 )

N • blood flow remains normal in most vessels of fatally irradiated mice receiving bone marrow transplants from Stim1^{Gt(RRS558)Byg} homozygotes in which thrombosis has been induced