Phenotypes Associated with This Genotype

Genotype
MGI:5804131

• Allelic Composition: Stk39^tm2.1Arte/Stk39^tm2.1Arte
• Genetic Background: involves: C57BL/6J

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

cardiovascular system

abnormal artery morphology ( J:224087 )

• mice exhibit a lower augmentation index (AIx, defined as augmentation pressure/pulse pressure) relative to wild-type controls (21.1 +/- 1.0 % versus 35.0 +/- 2.1 %), indicating a reduction in arterial stiffness

decreased heart left ventricle weight ( J:224087 )

• mice display a significantly lower left ventricular mass, as determined by the weight of the left ventricle and septum combined (LV+S) expressed as a % of body weight

decreased systemic vascular resistance ( J:224087 )

• mice exhibit a lower diastolic pressure time decay constant (tau_bourgeois, an index of vascular resistance) relative to wild-type controls (0.44 +/- 0.01 s versus 0.56 +/- 0.02 s), suggesting a reduction in vascular tone

abnormal heart echocardiography feature ( J:224087 )

• pulse waveform analysis revealed a significant decrease in augmentation pressure (SBP minus anacrotic notch pressure), in dicrotic notch pressure, and in MAP (1/3 SBP plus 2/3 DBP) relative to wild-type controls

• however, pulse pressure (SBP minus DBP) is normal

decreased heart rate ( J:224087 )

• mice exhibit lower heart rates than wild-type controls

decreased mean systemic arterial blood pressure ( J:224087 )

• under general anesthesia, mean arterial blood pressure (MAP) is 20 mmHg lower than in wild-type controls

decreased systemic arterial diastolic blood pressure ( J:224087 )

• under general anesthesia, diastolic blood pressure (DBP) is 20 mmHg lower than in wild-type controls

decreased systemic arterial systolic blood pressure ( J:224087 )

• under general anesthesia, systolic blood pressure (SBP) is 20 mmHg lower than in wild-type controls

decreased vasoconstriction ( J:224087 )

• mice display a reduction in vascular contractility, as indicated by their lower augmentation index (AIx) and a decrease in the diastolic pressure decay time constant (tau_bourgeois)

homeostasis/metabolism

decreased circulating magnesium level ( J:224087 )

• mice exhibit mild hypomagnesemia

decreased circulating potassium level ( J:224087 )

• mice exhibit mild hypokalemia

increased urine sodium level ( J:224087 )

• after switching from a 3% w/w to a 0.03% w/w salt (Na) diet, mice show a significant increase in urinary Na⁺ excretion relative to similarly treated wild-type controls, indicating salt wasting

decreased urine calcium level ( J:224087 )

• mice exhibit a marked reduction in creatinine normalized urinary calcium levels

• however, plasma calcium levels are not significantly altered

renal/urinary system

renal/urinary system phenotype ( J:224087 )

N • mice exhibit no remodeling of renal tubules, despite a striking reduction in the phosphorylated forms of NCC and NKCC2 in the distal convoluted (DCT) and thick ascending limb (TAL) tubules

increased urine sodium level ( J:224087 )

• after switching from a 3% w/w to a 0.03% w/w salt (Na) diet, mice show a significant increase in urinary Na⁺ excretion relative to similarly treated wild-type controls, indicating salt wasting

decreased urine calcium level ( J:224087 )

• mice exhibit a marked reduction in creatinine normalized urinary calcium levels

• however, plasma calcium levels are not significantly altered

muscle

decreased vasoconstriction ( J:224087 )

• mice display a reduction in vascular contractility, as indicated by their lower augmentation index (AIx) and a decrease in the diastolic pressure decay time constant (tau_bourgeois)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gitelman syndrome		DOID:0050450	OMIM:263800	J:224087