Phenotypes associated with this allele

• Allele Symbol: Gata5^tm1.2Nemr
• Allele Name: targeted mutation 1.2, Mona Nemer
• Allele ID: MGI:5296243
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gata5^tm1.2Nemr/Gata5^tm1.2Nemr	involves: 129 * C57BL/6	MGI:5296320
hm2	Gata5^tm1.2Nemr/Gata5^tm1.2Nemr	Not Specified	MGI:5707848

Genotype
MGI:5296320

hm1

• Allelic Composition: Gata5^tm1.2Nemr/Gata5^tm1.2Nemr
• Genetic Background: involves: 129 * C57BL/6

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

Mild left ventricular hypertrophy in Gata5^tm1.2Nemr/Gata5^tm1.2Nemr mice

cardiovascular system

abnormal aorta bulb morphology ( J:175663 )

• the aortic root area is decreased compared to in control mice

aorta stenosis ( J:175663 )

• mild as early as day 70 and accentuated by 180 days

decreased myocardial fiber number ( J:175663 )

• in the ventricles

increased myocardial fiber size ( J:175663 )

myocardial trabeculae hypoplasia ( J:175663 )

• at E11.5

abnormal heart development ( J:175663 )

• hypoplastic prenatally with compensatory postnatal hypertrophy

• the number of mesenchyme cells is decreased in the atrioventricular canal and outflow tract compared to in control mice

• the septal ridge is abnormally fused with the posterior intercalated cushion compared with control mice

• however, cardiac jelly formation is normal

decreased fetal cardiomyocyte number ( J:175663 )

• decreased in number in the left ventricle at E11.5

increased heart right atrium size ( J:175663 )

thick interventricular septum ( J:175663 )

enlarged heart ( J:175663 )

• mild

abnormal heart left ventricle morphology ( J:175663 )

• thin at E11.5

• om adult mice, the left ventricular posterior wall thickness is increased compared to in control mice

abnormal aortic valve cusp morphology ( J:175663 )

• mice exhibit the fusion of the right-coronary and noncoronary valve leaflets unlike in control mice

bicuspid aortic valve ( J:175663 )

• in 7 of 28 mice compared with 1 of 29 control mice

increased heart left ventricle weight ( J:175663 )

abnormal heart right ventricle morphology ( J:175663 )

• thin at E11.5

thin ventricular wall ( J:175663 )

• at E11.5

abnormal blood circulation ( J:175663 )

• at 70 days, mice exhibit increased velocity and pressure gradient at the level of the mitral, atrioventricular, and pulmonary valves compared with wild-type mice

• some mice exhibit increased velocity and gradient through the arterioventricular valve compared with wild-type mice

increased heart ventricle muscle contractility ( J:175663 )

• slightly

muscle

decreased myocardial fiber number ( J:175663 )

• in the ventricles

increased myocardial fiber size ( J:175663 )

myocardial trabeculae hypoplasia ( J:175663 )

• at E11.5

increased heart ventricle muscle contractility ( J:175663 )

• slightly

growth/size/body

enlarged heart ( J:175663 )

• mild

Genotype
MGI:5707848

hm2

• Allelic Composition: Gata5^tm1.2Nemr/Gata5^tm1.2Nemr
• Genetic Background: Not Specified

cardiovascular system

perivascular fibrosis ( J:227997 )

• older mice develop cardiac perivascular fibrosis

hypertension ( J:227997 )

• systolic and diastolic blood pressure are increased in young (90 day) male and female mice

• hydrochlorothiazide reduces, but does not normalize, blood pressure

• mice treated with hydralazine, a vascular smooth muscle cell relaxant, show a drop in blood pressure as is seen with controls, however, endothelial dysfunction is not normalized and glomerular lesions are only partially reduced

salt-sensitive hypertension ( J:227997 )

• a high-salt diet increases blood pressure in 8 month old mice, while a low-salt diet decreases blood pressure without normalizing it

• regular salt diet for 4 weeks after the end of high- or low-salt diet brings blood pressure back to its initial level, indicating that mice develop salt sensitivity with age

increased systemic arterial diastolic blood pressure ( J:227997 )

• in young mice

increased systemic arterial systolic blood pressure ( J:227997 )

• in young mice

abnormal vasodilation ( J:227997 )

• vasodilatory response to acetylcholine is decreased in mesenteric arteries

• however, vasoconstrictor response of mesenteric arteries to phenylephrine is similar to controls and vasodilatory response to ethylamine NONOate, an NO donor, is similar to controls

immune system

kidney inflammation ( J:227997 )

• leukocyte infiltration is increased 2-fold in renal cortex, all around the tubules and the glomeruli

• inflammatory and kidney injury markers and inflammatory cell infiltrates are increased in older animals

• treatment with hydralazine abrogates renal inflammation

muscle

abnormal vasodilation ( J:227997 )

• vasodilatory response to acetylcholine is decreased in mesenteric arteries

• however, vasoconstrictor response of mesenteric arteries to phenylephrine is similar to controls and vasodilatory response to ethylamine NONOate, an NO donor, is similar to controls

renal/urinary system

increased urine protein level ( J:227997 )

• proteinuria in older mice

• however, urinary excretion of sodium, potassium, and chloride and electrolytes, and plasma electrolyte concentrations are unchanged

kidney inflammation ( J:227997 )

• leukocyte infiltration is increased 2-fold in renal cortex, all around the tubules and the glomeruli

• inflammatory and kidney injury markers and inflammatory cell infiltrates are increased in older animals

• treatment with hydralazine abrogates renal inflammation

abnormal kidney morphology ( J:227997 )

• older mice develop features of hypertensive nephropathy

abnormal renal glomerulus morphology ( J:227997 )

• glomerular cellularity is increased

glomerulosclerosis ( J:227997 )

• older mice exhibit segmental glomerulosclerosis with mesangial cell proliferation, glomerular basement membrane thickening, and accumulation of extracellular matrix

decreased renal glomerular filtration rate ( J:227997 )

• in older mice

homeostasis/metabolism

increased urine protein level ( J:227997 )

• proteinuria in older mice

• however, urinary excretion of sodium, potassium, and chloride and electrolytes, and plasma electrolyte concentrations are unchanged

decreased renin activity ( J:227997 )

• plasma renin activity is slightly, but significantly, decreased

• however, urinary aldosterone concentrations are normal

behavior/neurological

behavior/neurological phenotype ( J:227997 )

N • no differences in food and water intake

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
essential hypertension		DOID:10825	OMIM:145500 OMIM:603918 OMIM:604329 OMIM:607329 OMIM:608742 OMIM:610261 OMIM:610262 OMIM:610948 OMIM:611014	J:227997