Phenotypes Associated with This Genotype

Genotype
MGI:8249147

• Allelic Composition: Orai1^em1Ics/Orai1^em1Ics
• Genetic Background: C57BL/6NCrl-Orai1^em1Ics

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

growth/size/body

decreased body length ( J:372266 )

♂ • at 4 months of age, males, but not females, have a reduced body length

♂ • however, mice show normal weight gain over the first 16 weeks of life

increased spleen weight ( J:372266 )

♀ • females, but not males, show a 17% increase in spleen weight

hematopoietic system

increased spleen weight ( J:372266 )

♀ • females, but not males, show a 17% increase in spleen weight

extramedullary hematopoiesis ( J:372266 )

• spleen shows megakaryocyte hyperplasia associated with abnormal megakaryocyte distribution

thrombocytopenia ( J:372266 )

• mice show a reduction in circulating platelets

homeostasis/metabolism

decreased circulating calcium level ( J:372266 )

increased creatine kinase level ( J:372266 )

• mice show a tendency towards elevated creatine kinase levels

immune system

increased spleen weight ( J:372266 )

♀ • females, but not males, show a 17% increase in spleen weight

muscle

abnormal skeletal muscle fiber morphology ( J:372266 )

• myofibers show presence of tubular aggregates with length of up to 75 um, a width ranging from 2-8 um, and cross-section diameter of individual membrane tubules of 80-90 nm

skeletal muscle fiber atrophy ( J:372266 )

• mice show muscle weakness associated with myofiber atrophy

skeletal muscle fiber degeneration ( J:372266 )

• tibialis anterior muscle shows a decrease of average myofiber diameter and an increased ratio of internalized nuclei and calcium-rich fibers indicating muscle fiber degeneration

• calcium deposits are more prominent in males than females

impaired muscle contractility ( J:372266 )

• tibialis anterior muscle shows reduced maximal muscle force

• muscle force is normal at low stimulation frequencies of 20-50 Hz and is decreased at higher stimulation frequencies of 75-150 Hz

• primary myoblasts show an increase in resting calcium levels

increased muscle fatigability ( J:372266 )

• mice show abnormal fatigue curves with absence of muscle force increase in males after 10 stimulations and a similar tendency in females

skeleton

kyphosis ( J:372266 )

• almost all mice exhibit kyphosis

• spine curvature is more pronounced in males with 37.5% of males showing high-degree kyphosis which is not seen in females and 50% of males showing low-degree kyphosis and 70% of females showing low-degree kyphosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stormorken syndrome		DOID:0060354	OMIM:185070	J:372266
tubular aggregate myopathy 2		DOID:0080686	OMIM:615883	J:372266