Phenotypes associated with this allele

• Allele Symbol: Egln1^tm1Kael
• Allele Name: targeted mutation 1, William G Kaelin
• Allele ID: MGI:3777476
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Egln1^tm1Kael/Egln1^tm1Kael Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3793292
cn2	Egln1^tm1Kael/Egln1^tm1Kael Egln3^tm1Vlcg/Egln3^tm1Vlcg Tg(Myh6-cre)2182Mds/0	involves: 129S6/SvEvTac * FVB/N	MGI:5304713
cn3	Egln1^tm1Kael/Egln1^tm1Kael Tg(Myh6-cre)2182Mds/0	involves: 129S6/SvEvTac * FVB/N	MGI:5304715

Genotype
MGI:3793292

cn1

• Allelic Composition: Egln1^tm1Kael/Egln1^tm1Kael; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

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

mortality/aging

premature death ( J:132718 )

• mutants exposed to tamoxifen at E17.5 and 3 weeks after birth to induce cre expression begin dying suddenly around 10 weeks of age

growth/size/body

decreased body size ( J:132718 )

• by 10 weeks of age, mutants that are exposed to tamoxifen at E17.5 and 3 weeks after birth, are smaller

cardiovascular system

blood vessel congestion ( J:132718 )

• 8- to 10-week old mutants treated with tamoxifen at E17.5 and 3 weeks after birth exhibit venous congestion

abnormal myocardium layer morphology ( J:132718 )

• the space between myocardial fibers is increased in mutants treated with tamoxifen at E17.5 and 3 weeks after birth

increased myocardial fiber size ( J:132718 )

• cardiomyocytes of mutants treated with tamoxifen at E17.5 and 3 weeks after birth are enlarged, with occasional large nuclei

dilated cardiomyopathy ( J:132718 )

• mutants treated with tamoxifen at E17.5 and 3 weeks after birth consistently exhibit dilated cardiomyopathy

cardiac ischemia ( J:132718 )

• mutants treated with tamoxifen at E17.5 and 3 weeks after birth exhibit increased contraction band necrosis indicative of early cardiac ischemia

hemorrhage ( J:132718 )

• retroperitoneal hemorrhage is observed by 10 weeks of age in mutants exposed to tamoxifen at E17.5 and 3 weeks after birth

hematopoietic system

polycythemia ( J:132718 )

• mutants treated with tamoxifen at E17.5 and 3 weeks after birth show profound increases in red blood cell production associated with increased serum erythropoietin levels

muscle

abnormal myocardium layer morphology ( J:132718 )

• the space between myocardial fibers is increased in mutants treated with tamoxifen at E17.5 and 3 weeks after birth

increased myocardial fiber size ( J:132718 )

• cardiomyocytes of mutants treated with tamoxifen at E17.5 and 3 weeks after birth are enlarged, with occasional large nuclei

dilated cardiomyopathy ( J:132718 )

• mutants treated with tamoxifen at E17.5 and 3 weeks after birth consistently exhibit dilated cardiomyopathy

integument

reddish skin ( J:132718 )

• by 10 weeks of age, mutants that are exposed to tamoxifen at E17.5 and 3 weeks after birth are erythematous and begin dying suddenly

homeostasis/metabolism

increased circulating erythropoietin level ( J:132718 )

• mutants treated with tamoxifen at E17.5 and 3 weeks after birth show profound increases in red blood cell production associated with increased serum erythropoietin levels

Genotype
MGI:5304713

cn2

• Allelic Composition: Egln1^tm1Kael/Egln1^tm1Kael; Egln3^tm1Vlcg/Egln3^tm1Vlcg; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

mortality/aging

premature death ( J:179490 )

• mean survival is 29 weeks

cardiovascular system

increased angiogenesis ( J:179490 )

myocardial fiber degeneration ( J:179490 )

increased heart weight ( J:179490 )

• at 5 weeks and severe at 8 weeks

abnormal heart left ventricle morphology ( J:179490 )

• at 8 weeks, mice exhibit reduced left ventricular wall thickness and increased left ventricular end-diastolic dimension compared with control mice

decreased ventricle muscle contractility ( J:179490 )

• at 5 weeks and severe at 8 weeks

cardiomyopathy ( J:179490 )

• severe at 8 weeks of age

muscle

myocardial fiber degeneration ( J:179490 )

decreased ventricle muscle contractility ( J:179490 )

• at 5 weeks and severe at 8 weeks

cardiomyopathy ( J:179490 )

• severe at 8 weeks of age

cellular

decreased mitochondrial number ( J:179490 )

• myocytes exhibit mitochondrial loss

growth/size/body

increased heart weight ( J:179490 )

• at 5 weeks and severe at 8 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiomyopathy		DOID:0050700		J:179490

Genotype
MGI:5304715

cn3

• Allelic Composition: Egln1^tm1Kael/Egln1^tm1Kael; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

cardiovascular system

liver vascular congestion ( J:179490 )

• following thoracic aorta constriction, liver wet weight to dry weight is increased compared to in wild-type mice

pulmonary vascular congestion ( J:179490 )

• following thoracic aorta constriction, lung wet weight to dry weight is increased compared to in wild-type mice

increased angiogenesis ( J:179490 )

increased myocardial fiber size ( J:179490 )

• in aged mice

myocardial fiber degeneration ( J:179490 )

• following thoracic aorta constriction, mice exhibit myocyte dropout with replacement and interstitial fibrosis

enlarged heart ( J:179490 )

• following thoracic aorta constriction

increased heart weight ( J:179490 )

• following thoracic aorta constriction

abnormal heart left ventricle morphology ( J:179490 )

• following thoracic aorta constriction, mice exhibit increased left ventricular end-diastolic dimension compared with control mice

• aged mice exhibit left ventricular posterior wall thickness compared with control mice

cardiac interstitial fibrosis ( J:179490 )

• following thoracic aorta constriction

decreased ventricle muscle contractility ( J:179490 )

• following thoracic aorta constriction or left anterior descending artery and in aged mice

increased response of heart to induced stress ( J:179490 )

• following thoracic aorta constriction, mice exhibit increased cardiac hypertrophy, reduced cardiac function (decreased fractional shortening and increased left ventricular end-diastolic dimension and left ventricular posterior wall thickness), increased heart weight, cardiac interstitial fibrosis, enlarge myocardial fiber, and congestion in the lung and liver compared with wild-type mice

muscle

increased myocardial fiber size ( J:179490 )

• in aged mice

myocardial fiber degeneration ( J:179490 )

• following thoracic aorta constriction, mice exhibit myocyte dropout with replacement and interstitial fibrosis

decreased ventricle muscle contractility ( J:179490 )

• following thoracic aorta constriction or left anterior descending artery and in aged mice

homeostasis/metabolism

increased response of heart to induced stress ( J:179490 )

• following thoracic aorta constriction, mice exhibit increased cardiac hypertrophy, reduced cardiac function (decreased fractional shortening and increased left ventricular end-diastolic dimension and left ventricular posterior wall thickness), increased heart weight, cardiac interstitial fibrosis, enlarge myocardial fiber, and congestion in the lung and liver compared with wild-type mice

liver/biliary system

liver vascular congestion ( J:179490 )

• following thoracic aorta constriction, liver wet weight to dry weight is increased compared to in wild-type mice

respiratory system

pulmonary vascular congestion ( J:179490 )

• following thoracic aorta constriction, lung wet weight to dry weight is increased compared to in wild-type mice

cellular

cardiac interstitial fibrosis ( J:179490 )

• following thoracic aorta constriction

decreased mitochondrial number ( J:179490 )

• myocytes exhibit mitochondrial loss

growth/size/body

enlarged heart ( J:179490 )

• following thoracic aorta constriction

increased heart weight ( J:179490 )

• following thoracic aorta constriction