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Human Disease and Mouse Model Detail
Human Disease

Term: Von Hippel-Lindau Syndrome; VHL
OMIM ID: 193300

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Vhl VHL
  mousehuman...both mouse and human orthologous genes.
     
Hif1a HIF1A
Pten PTEN
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Ccnd1 CCND1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(Ggt1-Hif1a*)43Log   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Tg(Alb-cre)21Mgn/0
4 involves: 129 * BALB/c * C57BL/6 * DBA J:97652
Hif1atm3Rsjo/Hif1atm3Rsjo
Hprttm1(Pck1-cre)Vhh/Y
Vhltm1Jae/Vhltm1Jae
4 involves: 129 * BALB/c * C57BL/6 J:97652, J:106705
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
4 involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR J:137073
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
4 involves: 129S4/SvJae * ICR J:137442
Vhltm1.1Jae/Vhl+   involves: 129S4/SvJae * BALB/c J:67505
Vhltm1.1Lss/Vhl+   involves: BALB/c J:85513
Vhltm1.1Lss/Vhl+   involves: A/J J:85513
Vhltm1.1Wkr/Vhl+   involves: 129S4/SvJae * C57BL/6 J:157369
Vhltm1Jae/Vhltm1Jae
Tg(Alb-cre)21Mgn/0
4 involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA J:67505, J:97652
Vhltm1Lss/Vhltm1.1Lss
Tg(ACTB-cre)1Tes/0
4 involves: 129X1/SvJ * C3H * C57BL/6 J:85513
Vhltm1Lss/Vhltm1.1Lss   involves: 129X1/SvJ * C57BL/6 J:85513
Vhltm1Lss/Vhltm1Lss
Tg(Ins2-cre)25Mgn/0
4 either: (involves: 129X1/SvJ * C57BL/6 * DBA) or (involves: 129X1/SvJ * A/J * C57BL/6 * DBA) J:148174
Vhltm1Lss/Vhltm1Lss
Tg(Gcg-cre)1Slib/0
4 either: (involves: 129X1/SvJ * A/J) or (involves: 129X1/SvJ * C57BL/6) J:148174
Vhltm1Lss/Vhltm1Lss
Tg(Pdx1-cre)89.1Dam/0
4 involves: 129X1/SvJ * C57BL/6 * CBA J:148174
Vhltm1Wml/Vhl+   B6;129 J:42486, J:88492
Models with phenotypic similarity to human disease where etiologies are distinct.2
Hprttm1(Pck1-cre)Vhh/Y 4 involves: 129P2/OlaHsd * 129S4/SvJae * BALB/c * C57BL/6 J:97652, J:106705
Models involving transgenes or other mutation types.3
Tg(Ggt1-Hif1a*)43Log/0   involves: C57BL/6 J:177381

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Models involving transgenes or other mutation types may also appear in other sections of the table.
4Conditionally targeted allele(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory