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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Vhltm1Jae
targeted mutation 1, Rudolf Jaenisch
MGI:2136645
Summary 24 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Vhltm1Jae/Vhltm1Jae involves: 129S4/SvJae MGI:4459904
hm2
Vhltm1Jae/Vhltm1Jae involves: 129S4/SvJae * BALB/c MGI:2176967
cn3
Hif1atm3Rsjo/Hif1atm3Rsjo
Hprttm1(Pck1-cre)Vhh/Y
Vhltm1Jae/Vhltm1Jae
involves: 129 * BALB/c * C57BL/6 MGI:3621461
cn4
Arnttm1Bra/Arnttm1Bra
Hprttm1(Pck1-cre)Vhh/Y
Vhltm1Jae/Vhltm1Jae
involves: 129 * BALB/c * C57BL/6 MGI:3621462
cn5
Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129 * BALB/c * C57BL/6 * DBA MGI:3621471
cn6
Arnttm1Bra/Arnttm1Bra
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129 * BALB/c * C57BL/6 * DBA MGI:3621473
cn7
Vhltm1Jae/Vhltm1Jae
Lyz2tm1(cre)Ifo/Lyz2+
involves: 129P2/OlaHsd * 129S4/SvJae MGI:4418464
cn8
Hprttm1(Pck1-cre)Vhh/Y
Vhltm1Jae/Vhltm1Jae
involves: 129P2/OlaHsd * 129S4/SvJae * BALB/c * C57BL/6 MGI:3621460
cn9
Epas1tm1Mcs/Epas1tm1Mcs
Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * CD-1 MGI:5432005
cn10
Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * CD-1 MGI:5432006
cn11
Vhltm1Jae/Vhltm1Jae
Tg(Pax6-cre,GFP)2Pgr/0
involves: 129S4/SvJae MGI:5705504
cn12
Epas1tm1Mcs/Epas1tm1Mcs
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S4/SvJae * 129X1/SvJ * CD-1 MGI:5432007
cn13
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA MGI:2176966
cn14
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR MGI:4943542
cn15
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR MGI:4943534
cn16
Tg(Fabp1-cre)1Jig/0
Vhltm1Jae/Vhltm1Jae
involves: 129S4/SvJae * BALB/c * FVB/N MGI:4418472
cn17
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129S4/SvJae * C57BL/6 * DBA MGI:3832405
cn18
Vhltm1Jae/Vhltm1Jae
Tg(KRT14-cre)1Ipc/0
involves: 129S4/SvJae * C57BL/6 * SJL MGI:3832401
cn19
Vhltm1Jae/Vhltm1Jae
Tg(NPHS2-cre)295Lbh/?
involves: 129S4/SvJae * C57BL/6 * SJL MGI:5432351
cn20
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S4/SvJae * CD-1 MGI:5432002
cn21
Vhltm1Jae/Vhltm1Jae
Tg(Myh6-cre)2182Mds/0
involves: 129S4/SvJae * FVB/N MGI:5304714
cn22
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * ICR MGI:4839497
cn23
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * ICR MGI:4839498
cx24
Hif1atm1Rsjo/Hif1atm1Rsjo
Hif1antm1.2Rsjo/Hif1antm1.2Rsjo
Vhltm1Jae/Vhltm1Jae
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:4459906


Genotype
MGI:4459904
hm1
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• of MEFs after 48 hours of culturing in normoxia or hypoxia conditions




Genotype
MGI:2176967
hm2
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129S4/SvJae * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:3621461
cn3
Allelic
Composition
Hif1atm3Rsjo/Hif1atm3Rsjo
Hprttm1(Pck1-cre)Vhh/Y
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129 * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm3Rsjo mutation (3 available); any Hif1a mutation (11 available)
Hprttm1(Pck1-cre)Vhh mutation (0 available); any Hprt mutation (32 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• pockets of inflammation
• dilated lymphatic vessels
• unilateral and bilateral macroscopic cysts that vary in number and size are seen in 3 of 10 mice
• multiple microscopic cysts are also seen with 3 of 10 having cysts of tubular origin and 7 of 10 having cysts of glomerular origin
• cysts of both tubular and glomerular origin may occur in the same mouse

liver/biliary system
• cavernous hepatic hemangiomas seen in mice at 2 - 6 months of age and with increased frequency in mice older than 6 months

cardiovascular system
• proliferation of endothelial cells in hepatic blood vessels
• hepatic vascular angiectasia

neoplasm
• cavernous hepatic hemangiomas seen in mice at 2 - 6 months of age and with increased frequency in mice older than 6 months

hematopoietic system
• average red blood cell count is 10.77 x 106 compared to 9.3 x 106 in controls
• develop erythrocytosis as indicated by reddening of paws and muzzle
• hemoglobin content is 19.38 g/dl compared to 13.24 g/dl in controls

immune system
• pockets of inflammation

muscle
• hepatic vascular angiectasia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
J:97652 , J:106705




Genotype
MGI:3621462
cn4
Allelic
Composition
Arnttm1Bra/Arnttm1Bra
Hprttm1(Pck1-cre)Vhh/Y
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129 * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arnttm1Bra mutation (0 available); any Arnt mutation (15 available)
Hprttm1(Pck1-cre)Vhh mutation (0 available); any Hprt mutation (32 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• no macroscopic or microscopic renal cysts are detected

liver/biliary system
• moderate steatosis without angiectasia or endothelial cell proliferation is seen only in mutants over 9 months of age

neoplasm
N
• no hepatic hemangiomas are seen

hematopoietic system
N
• red cell count and hemoglobin levels are similar to controls




Genotype
MGI:3621471
cn5
Allelic
Composition
Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background
involves: 129 * BALB/c * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm3Rsjo mutation (3 available); any Hif1a mutation (11 available)
Speer6-ps1Tg(Alb-cre)21Mgn mutation (5 available); any Speer6-ps1 mutation (2 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• severe steatosis

cardiovascular system
• proliferation of endothelial cells in hepatic blood vessels
• hepatic vascular angiectasia

muscle
• hepatic vascular angiectasia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
J:97652




Genotype
MGI:3621473
cn6
Allelic
Composition
Arnttm1Bra/Arnttm1Bra
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background
involves: 129 * BALB/c * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arnttm1Bra mutation (0 available); any Arnt mutation (15 available)
Speer6-ps1Tg(Alb-cre)21Mgn mutation (5 available); any Speer6-ps1 mutation (2 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
N
• livers appear histologically normal at 4 - 6 weeks of age




Genotype
MGI:4418464
cn7
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Lyz2tm1(cre)Ifo/Lyz2+
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lyz2tm1(cre)Ifo mutation (10 available); any Lyz2 mutation (15 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• TPA-treated ears exhibit increased edema and inflammatory infiltration compared with similarly treated wild-type ears




Genotype
MGI:3621460
cn8
Allelic
Composition
Hprttm1(Pck1-cre)Vhh/Y
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprttm1(Pck1-cre)Vhh mutation (0 available); any Hprt mutation (32 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• pockets of inflammation
• dilated lymphatic vessels
• unilateral and bilateral macroscopic cysts that vary in number and size are seen in 4 of 22 mice
• multiple microscopic cysts are also seen with 5 of 20 having cysts of tubular origin and 7 of 20 having cysts of glomerular origin
• cysts of both tubular and glomerular origin may occur in the same mouse

liver/biliary system
• cavernous hepatic hemangiomas seen in mice at 2 - 6 months of age and with increased frequency in mice older than 6 months

cardiovascular system
• proliferation of endothelial cells in hepatic blood vessels
• hepatic vascular angiectasia

neoplasm
• cavernous hepatic hemangiomas seen in mice at 2 - 6 months of age and with increased frequency in mice older than 6 months

hematopoietic system
• average red blood cell count is 11.7 x 106 compared to 9.3 x 106 in controls
• develop erythrocytosis as indicated by reddening of paws and muzzle
• hemoglobin content is 20.05 g/dl compared to 13.24 g/dl in controls

immune system
• pockets of inflammation

muscle
• hepatic vascular angiectasia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
J:97652 , J:106705




Genotype
MGI:5432005
cn9
Allelic
Composition
Epas1tm1Mcs/Epas1tm1Mcs
Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epas1tm1Mcs mutation (1 available); any Epas1 mutation (46 available)
Hif1atm3Rsjo mutation (3 available); any Hif1a mutation (11 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton

hematopoietic system
N
• mice exhibit normal frequencies of KLS cells (hematopoietic stem cells and multipotential progenitors) numbers of red blood cells and lymphocytes and hematocrit

homeostasis/metabolism




Genotype
MGI:5432006
cn10
Allelic
Composition
Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm3Rsjo mutation (3 available); any Hif1a mutation (11 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system

homeostasis/metabolism




Genotype
MGI:5705504
cn11
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(Pax6-cre,GFP)2Pgr/0
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• early vertical branching from primary vascular plexuses in the retina

vision/eye
• early vertical branching from primary vascular plexuses in the retina




Genotype
MGI:5432007
cn12
Allelic
Composition
Epas1tm1Mcs/Epas1tm1Mcs
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epas1tm1Mcs mutation (1 available); any Epas1 mutation (46 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• mice exhibit normal hematocrit

homeostasis/metabolism




Genotype
MGI:2176966
cn13
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1Tg(Alb-cre)21Mgn mutation (5 available); any Speer6-ps1 mutation (2 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Vascular tumors in Vhltm1.1Jae/Vhl+ livers and vascular lesions in Vhltm1Jae/Vhltm1Jae Speer6-ps1Tg(Alb-cre)21Mgn/0 mice

mortality/aging
• die between 6 and 13 weeks of age

growth/size/body
• body weight is about 50% of wild-type

liver/biliary system
• numerous blood filled vascular cavities, but no large cavernous hemangiomas, are seen
• severe
• accumulation of neutral fats in hepatocytes is detectable by 2 weeks of age (J:67505)
• severe steatosis (J:97652)

cardiovascular system
• foci of increased vascularization are present in the liver
• proliferation of endothelial cells in hepatic blood vessels
• hepatic vascular angiectasia

hematopoietic system

muscle
• hepatic vascular angiectasia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
J:67505 , J:97652




Genotype
MGI:4943542
cn14
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• hydronephrosis, characterized by an expansion of the renal pelvis
• however, mutants do not display histological abnormalities in the urothelium of the renal pelvis or ureter, or in the structure of the tubules in the kidney cortex or medulla




Genotype
MGI:4943534
cn15
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (5 available); any Pten mutation (40 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• cysts exhibit a 3- to 6-fold increase in the number of Ki-67-positive kidney epithelial cells per mm2 of cortex
• 3 of 14 mice show isolated regions of benign squamous metaplasia within the kidney cortex
• kidney epithelial cells fail to maintain their primary cilia, resulting in uncontrolled proliferation and cyst formation
• mutants exhibit reduced frequency of primary cilia in cysts, with distal tubule cysts displaying only ~30% ciliated cells relative to 80-90% ciliated cells in wild-type
• hyperproliferation of the urothelium in the renal pelvis is more pronounced than in single Pten mutants
• males and females exhibit enlarged and heavier kidneys due to epithelial tubule cysts
• mutants develop multiple epithelial tubule cysts in the kidney cortex and medulla
• cysts develop in all mice (14 of 14) and are seen as early as 6-8 weeks of age
• cysts arise in collecting ducts and distal tubules
• most cysts are lined by a single layer of epithelial cells (simple cysts), whereas ~8% of cysts are lined by multilayered epithelial cells with occasional papillary projections (atypical cysts)
• mutants exhibit reduced frequency of primary cilia in cysts, with distal tubule cysts displaying only ~30% ciliated cells relative to 80-90% ciliated cells in wild-type
• mutants develop multiple epithelial tubule cysts in the kidney cortex
• mutants develop multiple epithelial tubule cysts in the kidney medulla

cellular
• mutants exhibit reduced frequency of primary cilia in cysts, with distal tubule cysts displaying only ~30% ciliated cells relative to 80-90% ciliated cells in wild-type
• cysts exhibit a 3- to 6-fold increase in the number of Ki-67-positive kidney epithelial cells per mm2 of cortex

neoplasm
N
• no tumors areas seen at 3-6 months of age, when mice are euthanized to avoid renal failure

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
J:137073




Genotype
MGI:4418472
cn16
Allelic
Composition
Tg(Fabp1-cre)1Jig/0
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129S4/SvJae * BALB/c * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Fabp1-cre)1Jig mutation (2 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• mice exposed to hypoxic conditions exhibit reduced impairment in intestinal barrier function compared with similarly treated wild-type mice
• TNBS-treated mice do not exhibit weight loss, as severe reduction in colon length, as much mortality, or an increase in intestinal permeability unlike similarly treated wild-type mice

immune system
• TNBS-treated mice do not exhibit weight loss, as severe reduction in colon length, as much mortality, or an increase in intestinal permeability unlike similarly treated wild-type mice




Genotype
MGI:3832405
cn17
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1Tg(Alb-cre)21Mgn mutation (5 available); any Speer6-ps1 mutation (2 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die at 6 to 8 weeks of age

liver/biliary system
• 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
• livers contain irregular, dilated, blood filled sinusoids and cytoplasmic vacuolizations within hepatocytes with eccentric nuclei unlike in wild-type mice
• at 6 weeks of age
• in a mixed micro- and macrovesicular steatotic pattern

hematopoietic system

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

growth/size/body
• mice are runted

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

cellular




Genotype
MGI:3832401
cn18
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(KRT14-cre)1Ipc/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(KRT14-cre)1Ipc mutation (0 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at weaning mice are runted

cardiovascular system
• the number of dilated dermal blood vessels is increased compared to in wild-type mice
• following application of an inflammatory stimuli

integument
• keratinocyte proliferation is increased
• partial by weaning
• at P5

cellular
• keratinocyte proliferation is increased




Genotype
MGI:5432351
cn19
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(NPHS2-cre)295Lbh/?
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(NPHS2-cre)295Lbh mutation (3 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• premature death beginning at ~6 months of age in mice with the highest levels of albuminuria (>1000 ug/ml)
• however, nonproteinuric mice survive to >1 year of age without overt health problems

renal/urinary system
N
• at P5, all mice exhibit normal comma and S-shaped nephric figures as well as normal capillary loop stage and maturing stage glomeruli relative to wild-type controls
• no changes in peritubular microvessels or larger arterioles and veins are observed
• dilated glomerular capillary lumen noted in mice with severe albuminuria as early as 4 weeks of age
• at 4 weeks of age, mice exhibit varying levels of albuminuria ranging from no detectable albumin to >1000 ug/ml in severe cases
• 54% of mice (males and females) are nonproteinuric with albumin levels ranging from 2.9 to 29.7 ug/ml, similar to those in wild-type controls
• dilated medullary collecting ducts noted in nonproteinuric mice at 4 weeks of age
• podocyte foot process broadening noted in all nonproteinuric mice at 4 weeks of age
• significant decrease in podocyte number noted in both proteinuric and nonproteinuric mice at 4 weeks of age, as shown WT1 staining
• incompletely fused or fragmented GBM noted on the subendothelial side of the capillary loop in nonproteinuric mice at 4 weeks of age
• abnormal GBM thickenings with numerous subepithelial "humps" and subendothelial matrix projections noted in nonproteinuric mice at 4 weeks of age
• at 16 weeks of age, overall GBM thickness in nonproteinuric mice increases to ~100 nm more than in wild-type controls
• ectopic deposition of collagen alpha1alpha2alpha1(IV) noted in GBM humps beneath podocytes
• mesangial hypercellularity noted in mice with severe albuminuria at 4 weeks of age
• mesangial matrix expansion noted in mice with severe albuminuria at 4 weeks of age
• slightly increased mesangial matrix noted in nonproteinuric mice at 4 weeks of age
• glomerular crescents noted in mice with severe albuminuria at 4 weeks of age
• severely fibrotic glomeruli noted in mice with massive albuminuria at 25 weeks of age
• noted in mice with severe albuminuria at 25 weeks of age
• dilated tubules containing proteinaceous casts and cellular debris noted in mice with severe albuminuria at 25 weeks of age
• occasional dilated tubules in nonproteinuric mice at 4 weeks of age
• proteinaceous casts detected in dilated tubules of mice with severe albuminuria at 25 weeks of age
• proteinaceous casts also noted in dilated medullary collecting ducts of nonproteinuric mice at 4 weeks of age
• end-stage renal failure observed in mice with the highest levels of albuminuria

homeostasis/metabolism
• at 33-41-weeks of age, increased BUN levels are noted in association with only the highest levels of albuminuria (>1000 ug/ml)
• severely nephrotic mice show a 6-fold increase in BUN levels relative to mice with lower levels of albuminuria
• edema noted in mice with the highest levels of albuminuria
• at 4 weeks of age, mice exhibit varying levels of albuminuria ranging from no detectable albumin to >1000 ug/ml in severe cases
• 54% of mice (males and females) are nonproteinuric with albumin levels ranging from 2.9 to 29.7 ug/ml, similar to those in wild-type controls

growth/size/body
• wasting noted in mice with the highest levels of albuminuria

cardiovascular system
• dilated glomerular capillary lumen noted in mice with severe albuminuria as early as 4 weeks of age




Genotype
MGI:5432002
cn20
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• 3-fold increase in the frequency of KLS cells (hematopoietic stem cells and multipotential progenitors)
• 1.4-fold in the bone marrow
• 4-fold in the spleen
• increased mature erythroid (CFU-E) compared with immature erythroid (BFU-E)
• severe by 2 months

skeleton
• 2.5-fold in the metaphyseal region
• increased trabecular osteoblasts
• in the metaphyseal and diaphyseal regions

cardiovascular system
• hypervasculatization of the bone

growth/size/body

homeostasis/metabolism

immune system

limbs/digits/tail




Genotype
MGI:5304714
cn21
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(Myh6-cre)2182Mds/0
Genetic
Background
involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Myh6-cre)2182Mds mutation (3 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean survival is 9 weeks
• die between P16 and P18 due to sudden cardiac death

cardiovascular system
• at 5 weeks and severe at 8 weeks
• at 8 weeks, mice exhibit reduced left ventricular wall thickness and increased left ventricular end-diastolic dimension compared with control mice
• at 5 weeks and severe at 8 weeks
• neonates exhibit decreased heart rate at 10 days after birth
• neonates exhibit frequent cardiac arrhythmia, consistent with sudden cardiac death
• neonates exhibit increased QRS at 10 days after birth
• exhibit increased QTc (c denotes correction for heart rate) and QTc dispersion at 10 days after birth
• severe at 8 weeks of age

muscle
• at 5 weeks and severe at 8 weeks
• severe at 8 weeks of age

cellular
• myocytes exhibit mitochondrial loss

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sudden infant death syndrome DOID:9007 OMIM:272120
J:193425




Genotype
MGI:4839497
cn22
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (5 available); any Pten mutation (40 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• tumors contain regions of cystadenoma characterized by adenoid structures identical to human cystadenoma lesions arising in epididymides
• cystadenoma display clear cell morphology
• cysts and squamous epithelial hyperplasia in the oviduct
• females exhibit hyperplasia and full squamous differentiation of the uterine endometrial lumen, endometrial hyperplasia, and endometrial hyperplasia with cyst formation
• cysts and squamous epithelial hyperplasia in the cervix
• squamous metaplasia is seen in the epididymis
• vascularization is increased in the epididymides

neoplasm
• regions of squamous differentiation intermingle with the regions of cystadenoma
• cystadenomas appear to result from basal cell proliferation without differentiation, whereas regions of squamous metaplasia contain abundant basal cells in basal layers as well as cells with markers of epidermal differentiation
• all mutants develop benign mixed adenosquamous genital tract tumors (in epididymis, vesicular glands, vas deferens, endometrium, and oviduct) resembling clear cell cystadenomas that form in patients with Von Hippel-Lindau syndrome (VHL)
• tumors arise simultaneously in all genital tract epithelia and show expansion of basal cells
• endometrial hyperplasia with cyst formation resembles cystadenoma and cystic lesions seen in broad ligament of females with VHL
• tumors contain regions of cystadenoma characterized by adenoid structures identical to human cystadenoma lesions arising in epididymides
• cystadenoma display clear cell morphology

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
J:137442




Genotype
MGI:4839498
cn23
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• aberrant presence of dilated blood capillaries surrounding epididymal tubules indicating increased vascularization
• however, the genital tracts of males and females look normal




Genotype
MGI:4459906
cx24
Allelic
Composition
Hif1atm1Rsjo/Hif1atm1Rsjo
Hif1antm1.2Rsjo/Hif1antm1.2Rsjo
Vhltm1Jae/Vhltm1Jae
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1antm1.2Rsjo mutation (0 available); any Hif1an mutation (9 available)
Hif1atm1Rsjo mutation (0 available); any Hif1a mutation (11 available)
Vhltm1Jae mutation (3 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
N
• proliferation of MEFs after 48 hours of culturing in normoxia or hypoxia conditions is normal





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory