Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Construct Knockdown Component
Construct Regulatory Region
Allele/Variant Diseases: muscular dystrophy-dystroglycanopathy
twGD1160
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0210824
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: muscular dystrophy-dystroglycanopathy
Variant Name: Not Available
Large1vls
(Mus musculus)Allele/Variant
Source: MGI:3510641
Genes: Large1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: muscular dystrophy-dystroglycanopathy type B1
Variant Name: Not Available
Large1myd-3J
(Mus musculus)Allele/Variant
Source: MGI:3799277
Genes: Large1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: muscular dystrophy-dystroglycanopathy type B6
Variant Name: Not Available
Pomt1tm1c(EUCOMM)Hmgu
(Mus musculus)Allele/Variant
Source: MGI:6197751
Genes: Pomt1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: muscular dystrophy-dystroglycanopathy type B1
Variant Name: Not Available
rtP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0014813
Genes: rt (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: congenital muscular dystrophy-dystroglycanopathy type A1, Walker-Warburg syndrome
Variant Name: Not Available
Fktntm3.1Ttd
(Mus musculus)Allele/Variant
Source: MGI:5514346
Genes: Fktn (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: muscular dystrophy-dystroglycanopathy type B1
Variant Name: Not Available
Fktntm1Ttd
(Mus musculus)Allele/Variant
Source: MGI:3577652
Genes: Fktn (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Fukuyama congenital muscular dystrophy
Variant Name: Not Available
Large1myd
(Mus musculus)Allele/Variant
Source: MGI:1856965
Genes: Large1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: muscular dystrophy-dystroglycanopathy type B1, facioscapulohumeral muscular dystrophy
Variant Name: Not Available
Pomgnt1tm1.1Cfg
(Mus musculus)Allele/Variant
Source: MGI:5052171
Genes: Pomgnt1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: muscular dystrophy-dystroglycanopathy type B1
Variant Name: Not Available
Fktntm1Kcam
(Mus musculus)Allele/Variant
Source: MGI:5435571
Genes: Fktn (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Fukuyama congenital muscular dystrophy
Variant Name: Not Available
Fkrptm1Scbr
(Mus musculus)Allele/Variant
Source: MGI:4835411
Genes: Fkrp (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: autosomal recessive limb-girdle muscular dystrophy type 2I, muscular dystrophy-dystroglycanopathy type B1
Variant Name: Not Available
Fkrptm1Itl
(Mus musculus)Allele/Variant
Source: MGI:4834518
Genes: Fkrp (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: muscular dystrophy-dystroglycanopathy type B5, autosomal recessive limb-girdle muscular dystrophy type 2I, muscular dystrophy-dystroglycanopathy type B1
Variant Name: Not Available
Large1m1Btlr
(Mus musculus)Allele/Variant
Source: MGI:6725092
Genes: Large1 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: muscular dystrophy-dystroglycanopathy type B1
Variant Name: Not Available