Phenotypes associated with this allele

• Allele Symbol: Esrrg^tm1Rev
• Allele Name: targeted mutation 1, Ronald M Evans
• Allele ID: MGI:3771320
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Esrrg^tm1Rev/Esrrg^tm1Rev	either: (involves: 129) or (involves: C57BL/6) or (involves: ICR)	MGI:3771328
hm2	Esrrg^tm1Rev/Esrrg^tm1Rev	involves: C57BL/6	MGI:4429601
hm3	Esrrg^tm1Rev/Esrrg^tm1Rev	Not Specified	MGI:5438818
ht4	Esrrg^tm1Rev/Esrrg^+	either: (involves: 129) or (involves: C57BL/6) or (involves: ICR)	MGI:3771329

Genotype
MGI:3771328

hm1

• Allelic Composition: Esrrg^tm1Rev/Esrrg^tm1Rev
• Genetic Background: either: (involves: 129) or (involves: C57BL/6) or (involves: ICR)

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

mortality/aging

postnatal lethality, complete penetrance ( J:129851 )

• although mice are born alive, no mice survive beyond the first week after birth

cardiovascular system

abnormal impulse conducting system conduction ( J:129851 )

• mice exhibit an increase in the duration of ST, QT and QTc intervals

prolonged QT interval ( J:129851 )

• at E18.5, the QT interval is prolonged 10% and at P0 it is prolonged by 51%

prolonged ST segment ( J:129851 )

bundle branch block ( J:129851 )

• 70% of mice exhibit left or right bundle branch block

prolonged QRS complex duration ( J:129851 )

• at E18.5, the QRS complex is prolonged 30% compared to in wild-type mice and electrocardiogram trace morphologies exhibit notching or fractionation of the QRS complex

• at P0, the QRS complex is prolonged 44% compared to in wild-type mice

abnormal myocardial fiber physiology ( J:129851 )

• sodium current density in cardiac myocytes is reduced compared to in wild-type mice

cellular

increased mitochondrial number ( J:129851 )

• the ratio of mitochondrial DNA to nuclear DNA is increased by 90% in cardiac muscle cells

abnormal respiratory electron transport chain ( J:129851 )

• citrate synthase, NADH dehydrogenase and cytochrome c oxidase activity is reduced in cardiac muscle cells

homeostasis/metabolism

increased circulating lactate level ( J:129851 )

• mice exhibit fasting lactatemia with a 50% increase in plasma lactate after 8hr and 12 hrs fasting compared to wild-type mice

growth/size/body

decreased birth weight ( J:129851 )

• at birth, mice weigh less than wild-type mice

behavior/neurological

absent gastric milk in neonates ( J:129851 )

• newborns display fewer milk spots

Genotype
MGI:4429601

hm2

• Allelic Composition: Esrrg^tm1Rev/Esrrg^tm1Rev
• Genetic Background: involves: C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:156955 )

• death occurs by 2 days of age

• homozygotes born in expected ratios

Genotype
MGI:5438818

hm3

• Allelic Composition: Esrrg^tm1Rev/Esrrg^tm1Rev
• Genetic Background: Not Specified

renal/urinary system

abnormal renal glomerulus morphology ( J:168796 )

• at 17 dpc, glomerular maturation appears slightly retarded

abnormal kidney medulla morphology ( J:168796 )

• at 17 dpc, the medulla, instead of forming a normal blunt cone projecting into the pelvis, forms a concave disc beneath the cortex over a widely dilated pelvis

• however cortical architecture and nephrogenesis appear normal

abnormal kidney pelvis morphology ( J:168796 )

• at 17 dpc, the pelvis appears widely dilated

• however, there is no indication of hydronephrosis, as the ureter is not dilated

abnormal kidney papilla morphology ( J:168796 )

• at 17 dpc, optical projection tomography (OPT) imaging revealed flattening of the region of the papilla leading to an increase in luminal volume in 6/6 mutant kidneys relative to 1/8 of wild-type kidneys and 1/6 of heterozygous kidneys

absent kidney papilla ( J:168796 )

• agenesis of the renal papilla, as determined by detailed histology and morphometry at 17 dpc

• at 14.5 dpc, no renal papilla is identified; however, kidneys appear histologically normal with no obvious defect in either proliferation or apoptosis

Genotype
MGI:3771329

ht4

• Allelic Composition: Esrrg^tm1Rev/Esrrg⁺
• Genetic Background: either: (involves: 129) or (involves: C57BL/6) or (involves: ICR)

cardiovascular system

bundle branch block ( J:129851 )

• 27% of mice exhibit left or right bundle branch block

prolonged QRS complex duration ( J:129851 )

• at E18.5, the QRS complex is prolonged 13% compared to in wild-type mice

cellular

increased mitochondrial number ( J:129851 )

• the ratio of mitochondrial DNA to nuclear DNA is increased by 58% in cardiac muscle cells