Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Construct Expressed Component
Construct Regulatory Region
Allele/Variant Diseases: cell type benign neoplasm
Cdkn1bwe
(Rattus norvegicus)Allele/Variant
Source: RGD:12910941
Genes: Cdkn1b (Rno)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: pituitary adenoma, multiple endocrine neoplasia, cataract, pheochromocytoma, paraganglioma
Variant Name: Not Available
Tg(tetO-Notch4*)1Rwng
(Mus musculus)Allele/Variant
Source: MGI:4431198
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: arteriovenous malformations of the brain
Variant Name: Not Available
Tg(Ggt1-Hif1a*)43Log
(Mus musculus)Allele/Variant
Source: MGI:5298013
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: von Hippel-Lindau disease
Variant Name: Not Available
Atp7bhts
(Rattus norvegicus)Allele/Variant
Source: RGD:11532742
Genes: Atp7b (Rno)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Wilson disease, liver carcinoma, renal adenoma
Variant Name: Not Available
Men1tm1Zqw
(Mus musculus)Allele/Variant
Source: MGI:2664869
Genes: Men1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: multiple endocrine neoplasia type 1, prolactinoma, growth hormone secreting pituitary adenoma, hyperparathyroidism
Variant Name: Not Available
Tg(Amh-SMAD2*)#Jebu
(Mus musculus)Allele/Variant
Source: MGI:5543909
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: dermoid cyst of ovary
Variant Name: Not Available
Acvrl1tm2.1Spo
(Mus musculus)Allele/Variant
Source: MGI:4398901
Genes: Acvrl1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: arteriovenous malformations of the brain, hereditary hemorrhagic telangiectasia
Variant Name: Not Available
Engtm2.1Hma
(Mus musculus)Allele/Variant
Source: MGI:3712802
Genes: Eng (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: arteriovenous malformations of the brain, hereditary hemorrhagic telangiectasia
Variant Name: Not Available
Vhltm1Wml
(Mus musculus)Allele/Variant
Source: MGI:1857702
Genes: Vhl (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: von Hippel-Lindau disease
Variant Name: Not Available
Tg(LPV-TAg121)2Tvd
(Mus musculus)Allele/Variant
Source: MGI:2445949
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: choroid plexus papilloma
Variant Name: Not Available
Hsap\VHLY98H.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0347234
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: von Hippel-Lindau disease
Variant Name: Not Available
Ptpn11tm1Gsf
(Mus musculus)Allele/Variant
Source: MGI:3522021
Genes: Ptpn11 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: hepatocellular adenoma, disease of metabolism, idiopathic scoliosis, dilated cardiomyopathy
Variant Name: Not Available
Tg(RIP1-Tag)2Dh
(Mus musculus)Allele/Variant
Source: MGI:2429941
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: pancreatic carcinoma, insulinoma
Variant Name: Not Available
Tg(Prl-EGFR)#Sme
(Mus musculus)Allele/Variant
Source: MGI:5696741
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: prolactinoma
Variant Name: Not Available
Vhltm1Jae
(Mus musculus)Allele/Variant
Source: MGI:2136645
Genes: Vhl (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: von Hippel-Lindau disease, sudden infant death syndrome
Variant Name: Not Available
Tg(PyLT)1Vb
(Mus musculus)Allele/Variant
Source: MGI:5805518
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: ACTH-secreting pituitary adenoma
Variant Name: Not Available
Vhltm1.1Jae
(Mus musculus)Allele/Variant
Source: MGI:2136646
Genes: Vhl (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: von Hippel-Lindau disease
Variant Name: Not Available
Vhltm1Lss
(Mus musculus)Allele/Variant
Source: MGI:2677574
Genes: Vhl (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: von Hippel-Lindau disease
Variant Name: Not Available
Krastm4Tyj
(Mus musculus)Allele/Variant
Source: MGI:2429948
Genes: Kras (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: juvenile myelomonocytic leukemia, sarcoma, colorectal cancer, ovarian cancer, arteriovenous malformations of the brain, pancreatic ductal carcinoma, endometriosis, intrahepatic cholangiocarcinoma, pancreatic ductal adenocarcinoma, lung cancer, prostate cancer, pancreatic carcinoma, urinary bladder cancer
Variant Name: Not Available
Vhltm1.1Wkr
(Mus musculus)Allele/Variant
Source: MGI:4436910
Genes: Vhl (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: von Hippel-Lindau disease
Variant Name: Not Available
Vhl1
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0246016
Genes: Vhl (Dme)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: inframe_deletion, start_lost
Diseases: von Hippel-Lindau disease
Variant Name: Not Available
hu2117
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-090611-1
Genes: vhl (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: clear cell renal cell carcinoma, von Hippel-Lindau disease, familial erythrocytosis 2
Variant Name: Not Available
ok161
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00091484
Genes: vhl-1 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: 5_prime_UTR_variant, coding_sequence_variant, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: clear cell renal cell carcinoma, von Hippel-Lindau disease
Variant Name: Not Available
Foxo3mommeR1
(Mus musculus)Allele/Variant
Source: MGI:4949204
Genes: Foxo3 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: dermoid cyst of ovary
Variant Name: Not Available
Vhltm1.1Lss
(Mus musculus)Allele/Variant
Source: MGI:2677579
Genes: Vhl (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: von Hippel-Lindau disease
Variant Name: Not Available