Phenotypes Associated with This Genotype

Genotype
MGI:7623214

• Allelic Composition: Stim1^tm3Ics/Stim1⁺
• Genetic Background: involves: C57BL/6N

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

adipose tissue

decreased subcutaneous adipose tissue amount ( J:277842 )

• reduced fat layer

decreased body fat mass ( J:277842 )

behavior/neurological

behavior/neurological phenotype ( J:277842 )

N • normal behavior in rotarod test

decreased grip strength ( J:277842 )

• reduced grip strength and severely reduced hanging time

decreased locomotor activity ( J:277842 )

• less distance traveled and lower speed in open field test

paresis ( J:277842 )

• upward gaze paresis of the eyes

cellular

abnormal skeletal muscle fiber mitochondrial morphology ( J:277842 )

• swollen mitochondria in TA muscle fibers

decreased mitochondrial number ( J:327797 )

♂ • in soleus and TA muscle

increased skeletal muscle cell apoptosis ( J:327797 )

♂ • increased degeneration-regeneration cycles in soleus and TA muscle fibers

increased endoplasmic reticulum stress ( J:327797 )

♂ • in sarcoplasmic reticulum (SR) of TA muscle

abnormal oxidative phosphorylation ( J:327797 )

♂ • reduced mitochondrial oxygen consumption in soleus and TA muscle

♂ • reduced mitochondrial reactive oxygen species production in soleus muscle

growth/size/body

decreased body fat mass ( J:277842 )

decreased lean body mass ( J:277842 )

decreased body weight ( J:277842 )

• 11.9% reduction in females and 21.3% in males

decreased body length ( J:277842 )

• 7.2% reduction in females and 7.7% in males

increased spleen weight ( J:277842 )

• 55% increase in females and 31% in males

hematopoietic system

increased spleen weight ( J:277842 )

• 55% increase in females and 31% in males

abnormal megakaryocyte morphology ( J:277842 )

• megakaryocyte hyperplasia in spleen

increased neutrophil cell number ( J:277842 )

• in blood and spleen

thrombocytopenia ( J:277842 )

• 78% reduction in females and 79% in males

increased mean platelet volume ( J:277842 )

• 63% increase in females and 74.4% in males

decreased lymphocyte cell number ( J:277842 )

• in blood and spleen

decreased NK T cell number ( J:277842 )

• in spleen

decreased regulatory T cell number ( J:277842 )

• in spleen

increased monocyte cell number ( J:277842 )

• in blood and spleen

homeostasis/metabolism

decreased circulating glucose level ( J:277842 )

increased circulating insulin level ( J:277842 )

decreased circulating calcium level ( J:277842 )

increased circulating phosphate level ( J:277842 )

increased circulating alanine transaminase level ( J:277842 )

increased circulating aspartate transaminase level ( J:277842 )

increased circulating creatine kinase level ( J:277842 )

• 6-8x increase

increased bleeding time ( J:277842 )

improved glucose tolerance ( J:277842 )

♂

decreased alkaline phosphatase activity ( J:277842 )

♀

immune system

increased spleen weight ( J:277842 )

• 55% increase in females and 31% in males

increased neutrophil cell number ( J:277842 )

• in blood and spleen

decreased lymphocyte cell number ( J:277842 )

• in blood and spleen

decreased NK T cell number ( J:277842 )

• in spleen

decreased regulatory T cell number ( J:277842 )

• in spleen

increased monocyte cell number ( J:277842 )

• in blood and spleen

myositis ( J:277842 )

• increased inflammatory cell infiltration

integument

decreased subcutaneous adipose tissue amount ( J:277842 )

• reduced fat layer

thick dermal layer ( J:277842 )

limbs/digits/tail

decreased internal diameter of femur ( J:277842 )

• reduced bone marrow area

decreased internal diameter of tibia ( J:277842 )

• reduced bone marrow area

decreased gastrocnemius weight ( J:277842 )

• 36.6% reduction in females and 19.3% in males

increased soleus weight ( J:277842 )

• 57.3% increase in females and 58.4% in males

mortality/aging

premature death ( J:277842 )

• only 50% of mice live longer than 9 months

lethality throughout fetal growth and development, incomplete penetrance ( J:277842 )

• breeding cages with WT x heterozygotes pairs yield 41% heterozygotes and 59% WT offspring

perinatal lethality, incomplete penetrance ( J:277842 )

• breeding cages with WT x heterozygotes pairs yield 41% heterozygotes and 59% WT offspring

muscle

abnormal muscle weight ( J:277842 )

• increased soleus weight and decreased gastrocnemius weight

• normal TA and EDL weights

abnormal skeletal muscle morphology ( J:277842 )

• increase in internalized nuclei

• no tubular aggregates

decreased gastrocnemius weight ( J:277842 )

• 36.6% reduction in females and 19.3% in males

increased soleus weight ( J:277842 )

• 57.3% increase in females and 58.4% in males

abnormal skeletal muscle fiber morphology ( J:277842 , J:327797 )

• increased proportion of slow-twitch type I fibers (J:277842)

• increased incidence of abnormally shaped (rounded cross-section) fibers (J:277842)

♂ • increased proportion of slow-twitch type I fibers in soleus muscle (J:327797)

abnormal skeletal muscle fiber mitochondrial morphology ( J:277842 )

• swollen mitochondria in TA muscle fibers

centrally nucleated skeletal muscle fibers ( J:277842 )

• increase in internalized nuclei

skeletal muscle fibrosis ( J:277842 )

abnormal muscle physiology ( J:277842 , J:327797 )

• increased Ca2+ resting levels and extracellular Ca2+ influx (J:277842)

• normal Ca2+ storage (J:277842)

♂ • increased Ca2+ resting levels and extracellular Ca2+ influx in soleus and TA muscle (J:327797)

♂ • normal Ca2+ storage (J:327797)

increased skeletal muscle cell apoptosis ( J:327797 )

♂ • increased degeneration-regeneration cycles in soleus and TA muscle fibers

myositis ( J:277842 )

• increased inflammatory cell infiltration

enhanced skeletal muscle regeneration ( J:327797 )

♂ • increased degeneration-regeneration cycles in soleus and TA muscle fibers

impaired muscle relaxation ( J:277842 )

• increased time to relaxation of TA during continuous sciatic nerve stimulation

decreased muscle fatigability ( J:277842 )

• increased time to fatigue of TA during continuous sciatic nerve stimulation

muscle weakness ( J:277842 )

♂ • lower maximal and specific force in the TA after sciatic nerve stimulation

skeleton

abnormal bone structure ( J:277842 )

• reduced cellular density in tibia, femur and lumbar vertebrae

decreased internal diameter of femur ( J:277842 )

• reduced bone marrow area

decreased internal diameter of tibia ( J:277842 )

• reduced bone marrow area

decreased bone trabecula number ( J:277842 )

• in distal femur at age 4 months

decreased bone stiffness ( J:277842 )

• 10% decrease of polar moment of inertia (MOI)

decreased bone strength ( J:277842 )

• 10% decrease of polar moment of inertia (MOI)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stormorken syndrome		DOID:0060354	OMIM:185070	J:277842 , J:327797
tubular aggregate myopathy 1		DOID:0080089	OMIM:160565	J:277842 , J:327797