Version: 8.0.0
Date: Tue Jan 28 2025
Adamts20m3Btlr
MGI:5607745
Allele of Adamts20
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Adamts20m3Btlr

Species
Mus musculus
Symbol
Adamts20m3Btlr
Category
allele
Allele of gene
Adamts20
Transgenic Constructs
None
Synonyms
  • pikachu
Description
The molecular lesion is a T to A transversion at base pair 94,345,990 (v38) on chromosome 15 or base pair 119,429 in the GenBank genomic region NC_000081. This corresponds to nucleotide (nt) 2,116 in the mRNA sequence NM_177431 (isoform 1), within exon 13 of 39 total exons, and to nt 2,116 in the mRNA sequence NM_00164785 (isoform 2), within exon 13 of 28 total exons. The mutation results in a cysteine (C) to serine (S) substitution at amino acid position 619 (C619S) in both Adamts20 protein variants.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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