Phenotypes associated with this allele

• Allele Symbol: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}
• Allele Name: targeted mutation 4, William G Kaelin
• Allele ID: MGI:3832386
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^tm4(HIF2A*)Kael/Gt(ROSA)26Sor^+ Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: 129S6/SvEvTac * BALB/c * C57BL/6 * DBA	MGI:3832403
cn2	Gt(ROSA)26Sor^tm3(HIF1A*)Kael/Gt(ROSA)26Sor^tm4(HIF2A*)Kael Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: 129S6/SvEvTac * BALB/c * C57BL/6 * DBA	MGI:3832404
cn3	Gt(ROSA)26Sor^tm4(HIF2A*)Kael/Gt(ROSA)26Sor^+ Tg(KRT14-cre)1Ipc/0	involves: 129S6/SvEvTac * BALB/c * C57BL/6 * SJL	MGI:3832400
cn4	Gt(ROSA)26Sor^tm4(HIF2A*)Kael/Gt(ROSA)26Sor^tm4(HIF2A*)Kael Tg(Vil1-cre/ERT2)23Syr/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:6721388
cn5	Gt(ROSA)26Sor^tm4(HIF2A*)Kael/Gt(ROSA)26Sor^+ Tg(Myh6-cre)2182Mds/0	involves: 129S6/SvEvTac * FVB/N	MGI:5304716

Genotype
MGI:3832403

cn1

• Allelic Composition: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}/Gt(ROSA)26Sor⁺; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6 * DBA

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

mortality/aging

premature death ( J:144666 )

• mice die at 6 to 8 weeks of age

liver/biliary system

increased hepatocyte proliferation ( J:144666 )

abnormal liver morphology ( J:144666 )

• at 6 weeks, the liver is friable and stippled with irregular yellow spots on a reddish black background unlike in wild-type mice

• livers exhibit vascular lesions observed in Vhl^tm1Jae/Vhl^tm1Jae Tg(Alb-cre)21Mgn mice with minimal evidence of vacuolization

• hepatic vascularity is increased compared to in wild-type mice

increased liver weight ( J:144666 )

• at 6 weeks of age

hepatic steatosis ( J:144666 )

• minimal

hematopoietic system

increased hematocrit ( J:144666 )

reticulocytosis ( J:144666 )

cardiovascular system

abnormal blood vessel morphology ( J:144666 )

• hepatic vascularity is increased compared to in wild-type mice

growth/size/body

growth/size/body region phenotype ( J:144666 )

N • unlike in Vhl^tm1Jae/Vhl^tm1Jae Tg(Alb-cre)21Mgn mice, body weight is normal

increased liver weight ( J:144666 )

• at 6 weeks of age

integument

reddish skin ( J:144666 )

• of paws and unfurred skin by 4 to 6 weeks of age

cellular

increased hepatocyte proliferation ( J:144666 )

Genotype
MGI:3832404

cn2

• Allelic Composition: Gt(ROSA)26Sor^{tm3(HIF1A*)Kael}/Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6 * DBA

mortality/aging

premature death ( J:144666 )

• mice die at 6 to 8 weeks of age

liver/biliary system

increased hepatocyte proliferation ( J:144666 )

abnormal liver morphology ( J:144666 )

• at 6 weeks, the liver is friable and stippled with irregular yellow spots on a reddish black background unlike in wild-type mice

• hepatic vascularity is increased compared to in wild-type mice

increased liver weight ( J:144666 )

• at 6 weeks of age

hepatic steatosis ( J:144666 )

• in a mixed micro- and macrovesicular steatotic pattern

hematopoietic system

increased hematocrit ( J:144666 )

reticulocytosis ( J:144666 )

cardiovascular system

abnormal blood vessel morphology ( J:144666 )

• hepatic vascularity is increased compared to in wild-type mice

growth/size/body

growth/size/body region phenotype ( J:144666 )

N • unlike in Vhl^tm1Jae/Vhl^tm1Jae Tg(Alb-cre)21Mgn mice, body weight is normal

increased liver weight ( J:144666 )

• at 6 weeks of age

integument

reddish skin ( J:144666 )

• of paws and unfurred skin by 4 to 6 weeks of age

cellular

increased hepatocyte proliferation ( J:144666 )

Genotype
MGI:3832400

cn3

• Allelic Composition: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}/Gt(ROSA)26Sor⁺; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6 * SJL

cardiovascular system

dilated vasculature ( J:144666 )

• the number of dilated dermal blood vessels is increased compared to in wild-type mice

increased vascular permeability ( J:144666 )

• following application of an inflammatory stimuli

growth/size/body

decreased body size ( J:144666 )

• at weaning mice are runted

integument

increased keratinocyte proliferation ( J:144666 )

• keratinocyte proliferation is increased

alopecia ( J:144666 )

• partial by weaning

epidermal hyperplasia ( J:144666 )

reddish skin ( J:144666 )

• at P5

cellular

increased keratinocyte proliferation ( J:144666 )

• keratinocyte proliferation is increased

Genotype
MGI:6721388

cn4

• Allelic Composition: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}/Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}; Tg(Vil1-cre/ERT2)23Syr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

digestive/alimentary system

increased susceptibility to colitis induced morbidity/mortality ( J:307422 )

• exacerbated dextran sodium sulfate (DSS)-induced colitis after induction of intestinal epithelium specific knockout with tamoxifen: significantly reduced colon length, severe tissue damage with massive loss of crypt architecture and inflammatory cell infiltrations

growth/size/body

growth/size/body region phenotype ( J:307422 )

N • no gross abnormalities; normal histology

immune system

increased susceptibility to colitis induced morbidity/mortality ( J:307422 )

• exacerbated dextran sodium sulfate (DSS)-induced colitis after induction of intestinal epithelium specific knockout with tamoxifen: significantly reduced colon length, severe tissue damage with massive loss of crypt architecture and inflammatory cell infiltrations

mortality/aging

mortality/aging ( J:307422 )

N • normal survival

increased susceptibility to colitis induced morbidity/mortality ( J:307422 )

• exacerbated dextran sodium sulfate (DSS)-induced colitis after induction of intestinal epithelium specific knockout with tamoxifen: significantly reduced colon length, severe tissue damage with massive loss of crypt architecture and inflammatory cell infiltrations

Genotype
MGI:5304716

cn5

• Allelic Composition: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}/Gt(ROSA)26Sor⁺; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

liver/biliary system

liver vascular congestion ( J:179490 )

cardiovascular system

liver vascular congestion ( J:179490 )

pulmonary vascular congestion ( J:179490 )

increased angiogenesis ( J:179490 )

abnormal heart left ventricle morphology ( J:179490 )

• at 8 and 11 weeks, mice exhibit increased left ventricular end-diastolic dimension compared with control mice

cardiac fibrosis ( J:179490 )

• at 8 and 11 weeks

dilated cardiomyopathy ( J:179490 )

• 8 week old mice show signs of dilated cardiomyopathy including left ventricle dilatation and decreased fractional shortening

decreased ventricle muscle contractility ( J:179490 )

• at 8 and 11 weeks, mice exhibit reduced fractional shortening compared with control mice

respiratory system

pulmonary vascular congestion ( J:179490 )

muscle

dilated cardiomyopathy ( J:179490 )

• 8 week old mice show signs of dilated cardiomyopathy including left ventricle dilatation and decreased fractional shortening

decreased ventricle muscle contractility ( J:179490 )

• at 8 and 11 weeks, mice exhibit reduced fractional shortening compared with control mice

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