Phenotypes associated with this allele

• Allele Symbol: Stim1^Sax
• Allele Name: Saxcoburggotski
• Allele ID: MGI:3764828
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stim1^Sax/Stim1^Sax	involves: C3HeB/FeJ * C57BL/6	MGI:3764833
ht2	Stim1^Sax/Stim1^+	involves: C3HeB/FeJ * C57BL/6	MGI:3764834

Genotype
MGI:3764833

hm1

• Allelic Composition: Stim1^Sax/Stim1^Sax
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

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

Severe hemorrhage in Stim1^Sax/Stim1^Sax mice

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:127381 )

• very few embryos survive until E13 to E14 and only one mouse was born

embryonic lethality between somite formation and embryo turning, incomplete penetrance ( J:127381 )

• many residual bodies are detected at E7 to E9

cardiovascular system

hemorrhage ( J:127381 )

• at E13 to E14, remaining embryos exhibit severe hemorrhages in different regions of the body

Genotype
MGI:3764834

ht2

• Allelic Composition: Stim1^Sax/Stim1⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

Bone marrow fibrosis, splenomegaly and megakaryocyte hyperplasia in Stim1^Sax/Stim1⁺ mice

hematopoietic system

enlarged spleen ( J:127381 )

• at 6 months of age, spleen to body mass ratio is increased (14.8+/-4.63% compared to 4.1+/-0.23% in wild-type mice)

abnormal thrombopoiesis ( J:127381 )

• despite similar thrombopoeitin (TPO) levels as observed in wild-type mice, injection of TPO did not induce platelet production as it does in wild-type mice

increased megakaryocyte cell number ( J:127381 )

• at 6 months of age, red pulp is expanded and enriched for megakaryocytes (16.6+/-4.3 megakaryocytes per visual field compared to 4.4+/-13 megakaryocytes per visual field in wild-type mice)

thrombocytopenia ( J:127381 )

• platelet counts are lower than in wild-type mice due to decreased platelet lifespan and increased platelet clearance

• however, thrombopoeitin levels and megakaryocyte differentiation are normal

increased spleen red pulp amount ( J:127381 )

• at 6 months of age, red pulp is expanded and enriched for megakaryocytes (16.6+/-4.3 megakaryocytes per visual field compared to 4.4+/-13 megakaryocytes per visual field in wild-type mice)

abnormal platelet activation ( J:127381 )

• mice exhibit preactivation of platelets

• collagen responses and thrombus formation are defective

homeostasis/metabolism

abnormal platelet activation ( J:127381 )

• mice exhibit preactivation of platelets

• collagen responses and thrombus formation are defective

abnormal thrombosis ( J:127381 )

• thrombus formation is delayed (up to 30 minutes compared to 15 minutes in wild-type mice)

• however, 67% of mice form occlusion thrombi within the same time frame as wild-type mice

increased bleeding time ( J:127381 )

• bleed time and total blood loss is increased (59 ul compared to 43 to 75 ul in wild-type mice)

immune system

immune system phenotype ( J:127381 )

N • T cell development and function are normal

N • at 4 weeks and 6 months of age, total cell counts in the spleen and numbers of T and B cell, granulocytes and monocytic cells is normal

enlarged spleen ( J:127381 )

• at 6 months of age, spleen to body mass ratio is increased (14.8+/-4.63% compared to 4.1+/-0.23% in wild-type mice)

abnormal thrombopoiesis ( J:127381 )

• despite similar thrombopoeitin (TPO) levels as observed in wild-type mice, injection of TPO did not induce platelet production as it does in wild-type mice

increased spleen red pulp amount ( J:127381 )

• at 6 months of age, red pulp is expanded and enriched for megakaryocytes (16.6+/-4.3 megakaryocytes per visual field compared to 4.4+/-13 megakaryocytes per visual field in wild-type mice)

skeleton

abnormal bone marrow morphology ( J:127381 )

• at 6 months of age, mice develop bone marrow fibrosis that leads to a reduction in bone marrow cellularity and stromal degeneration

myelofibrosis ( J:127381 )

• at 6 months of age, mice develop bone marrow fibrosis

growth/size/body

enlarged spleen ( J:127381 )

• at 6 months of age, spleen to body mass ratio is increased (14.8+/-4.63% compared to 4.1+/-0.23% in wild-type mice)