Genomic Feature

fh231

ID
ZDB-ALT-100216-2
Name
fh231
Synonyms
  • G262D (1)
  • G6136A (1)
  • smnG264D (1)
Affected Genomic Region
Construct
None
Type
Allele with one point mutation (1)
Protocol
adult males treated with ENU
Lab of Origin
Moens Lab
Current Source
Other Pages
Notes
No data available
Genome Browser
Genome Build: GRCz11Chromosome: 5
Variants
Variant Type
Point Mutation
Variant Location
Chr 5: 43799504 (GRCz11) (1) Details
Nucleotide change
C/T
Variant Notes
This is a G-A missense mutation, converting G264 to D.
Effect on DNA/cDNA, transcript, protein (from publications)
DNA/cDNA Change
G>A (1)
Transcript Consequence
Missense (1)
Protein Consequence
Amino Acid Substitution: Gly>Asp at position 264 (1)
Sequences
Flanking Sequence
GAGTGCTATACTGCTGAAGATGAAGGCAGCACTAATGTCTTGATACCTCTGGCTGTTGATGTTACCATCCACTCTGCAGACTCTCACACACCCCCATACTGAATGTAACCCCAAACCATAACTTTTTCCTTTACCAAACTTGACTGATTTCTGTGAGAATCTTGGATCCATGCAGGTTCCTTTAGGTCTTCTGCAGTATTTGTGATGTTTGGGATTCAGTTCAACAAATAATTCATCTGAAGAATTAACCCTCTGGCACTTTTCCAAATGATCAACTAGAAGTCAAATAATTATTTGTTGCTCTTACAACAGGGATCGATGAGAAGACTTTTGTCAGGAAGTGAACACATCTACTCAACCCAAACCCTCCCTATATCTAGAAATTCAAATTTAACAGTGATCCATGTGAAATTATGAGACTGAAAAAAAACAAACCGTTGGGTTTTTATTTCCGATGCGATTTCTTGGATGCAGCAGCCTCTTTACGGCCCTGTCTTAAA
C/T CCTGTTTAAAAAATAAATAATTAAGTAAAAAGTGAAAACAGCAGGTAGACAAAGAGATGCTTGTAAATTACAAGAAAAACAACTGTACCATATAGTATCCAGTGTGATAGCCGCTCATATACCAGGAAATCAGCATACTGCCCAAAGCCTCGTCGTCCTCCCCAAAGTCTGGACTCATAGGTGGCGGTGGTGGGATCATCTGCACCAGTTTATCACCATTACAAATAATAAACTCATCTCACTGTCTGTAAAGCTTTGACCGCACTCTAAAATGTTGGGTGGGTGATGTAACCCAATATGGAGTAAAATAATGGACAAACGTTATATAATAACATTTAAATGACACTTTATAACCCAATGACTGTGTTTGTTCATATTTGGCCCACAAGAGTGAAGGTCCGGCCATCCATCCTGTATAATGGATTTTGTCAAACCCTTCTGTACTGTTCAAATTTACAACCCTTTTGTTGTGTTTATGGCTGTTTTTGCCATATTGACTT
Additional Sequence
None
Fish
Fish Genomic Feature Zygosity Parental Zygosity Affected Genomic Regions Phenotype Gene Expression
smn1fh231/fh231Homozygous♀+/- ♂+/-2 figures from Boon et al., 2009Fig. 4 from Boon et al., 2009
1 - 1 of 1
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Supplemental Information
Genotyping protocol
None
Citations
TSV
1 - 1 of 1
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