Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Construct Expressed Component
Construct Knockdown Component
Construct Regulatory Region
Allele/Variant Diseases: congenital structural myopathy
Hsap\DNM2R465W.UAS.Tag:HA
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0316793
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy
Variant Name: Not Available
Mtm1tm1.1Jman
(Mus musculus)Allele/Variant
Source: MGI:2450997
Genes: Mtm1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy
Variant Name: Not Available
Amph26
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0128040
Genes: Amph (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy 2
Variant Name: Not Available
AmphHMJ21356
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0293116
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy 2
Variant Name: Not Available
mtmJF01114
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0245431
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy X-linked
Variant Name: Not Available
Hsap\DNM2S619L.UAS.Tag:HA
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0316795
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy
Variant Name: Not Available
Tg(Myh7-Pln)2Egk
(Mus musculus)Allele/Variant
Source: MGI:3834218
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy
Variant Name: Not Available
Hsap\DNM2A618T.UAS.Tag:HA
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0316794
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: centronuclear myopathy
Variant Name: Not Available
Klhl31em1Eno
(Mus musculus)Allele/Variant
Source: MGI:6163749
Genes: Klhl31 (Mmu)
Synonyms: Not Available
Variant Type: insertion
Molecular Consequence: stop_gained, frameshift_variant
Diseases: centronuclear myopathy
Variant Name: Not Available
Dnm2tm1.1Ics
(Mus musculus)Allele/Variant
Source: MGI:4848043
Genes: Dnm2 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: centronuclear myopathy
Variant Name: Not Available
Act88FG268D
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0062243
Genes: Act88F (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: congenital structural myopathy
Variant Name: Not Available
ar479
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00000254
Genes: mtm-9 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: centronuclear myopathy
Variant Name: Not Available
Act88FM320
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0038095
Genes: Act88F (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: congenital structural myopathy
Variant Name: Not Available
ar513
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00000266
Genes: mtm-6 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: centronuclear myopathy
Variant Name: Not Available
Act88FR256C
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0248514
Genes: Act88F (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: congenital structural myopathy
Variant Name: Not Available
zf711
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-170608-3
Genes: mtm1 (Dre)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: frameshift_variant
Diseases: centronuclear myopathy, centronuclear myopathy X-linked
Variant Name: Not Available