Genomic Feature

a9

ID
ZDB-ALT-980203-444
Name
a9
Synonyms
  • (part of) Casper fish (1)
  • (part of) Crystal fish (1)
  • roy (1)
Affected Genomic Region
Construct
None
Type
Allele with multiple variants (1)
Protocol
spontaneous 
Lab of Origin
Dowling Lab
Current Source
Zebrafish International Resource Center (ZIRC)    (order this)
European Zebrafish Resource Center (EZRC)    (order this)
Other Pages
Note
The mpv17 gene in the casper fish (mpv17a9, mitfa w2) and roy (mpv17a9) is missing the sequence TACAGATTATAACTGCTGG (20:38674761-38674779) it also contained two specific homozygous insertions (chr20: 38737392 T>TA and chr20: 38738626 C>CT) and one specific homozygous deletion (deletion (chr20: 38737515 T > -).
A 19 bp deletion was identified at the cDNA level, between exons2 and 3. This deletion is most likely due to aberrant splicing. No exonic mutations that would have caused the splicing defect were detected. The authors reported that they assumed that the underlying genomic defect occurs in the intron between exons 2 and 3, but they repeatedly failed to amplify the genomic DNA from intron 2–3, suggesting there is a deletion in this intron that leads to aberrant splicing and subsequent early stop of the mRNA.
Genome Browser
>
Variants
Variant Type
Variant Location
Chr 20: 38674761 - 38674779 (GRCz11) (1) Details
Nucleotide change
Variant Notes
The mpv17 gene in the casper fish (mpv17a9, mitfa w2) and  ...
A 19 bp deletion was identified at the cDNA level, between exons2 and 3. This  ...
Effect on DNA/cDNA, transcript, protein (from publications)
DNA/cDNA Change
None
Transcript Consequence
Splicing Variant, Frameshift, Premature Stop (1)
Protein Consequence
None
Sequences
Flanking Sequence
None
Additional Sequence
None
Fish
Supplemental Information
Genotyping protocol
None
Citations