Genomic Feature
m454
- ID
- ZDB-ALT-980203-692
- Name
- m454
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Driever Lab
- Current Source
- Zebrafish International Resource Center (ZIRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 25: 3183748 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Ile>Asn at position 76 (1)
- Flanking Sequence
-
TGGGGGGTGAAAAGTTTGCTGTGCCTTCATGATTATTATTCTGTAATTGTGTAATCTGTTGTGATATGCAAATTGACAAAAAGTAATAAATATATTGTACAAAAAAAAAACATTGAATAATCCAACAACCCCAAGTTTGTAATTGTATCATCTACATGACTTTTTGTACCTTGCCGAGTTTAGATGACCCAGCCCGGACGCAGGACACCTTCCCACCCATATCTCCAGCAAACACCCGGAGGGCCACGGTGTCCCAGCACAGGGATGTTACGGTCACTCCACGGTGCTCCCAAGACACAGAGGCGCGTTCCGGACGTCCACGGCGCTCCAGATGAAGCTCCCACACCACCACCAAACCCTGACTAAGGAAAACACACAACAGAAGAGTCCAGACTGGAGAACACAGACTCCTGGAGAACATGTACATGAAGGATTAAGAGGAATACCTGGTGGCCACAGCGATGAAGTCCTCATCATGAGGGCAGCAGGAGACCTGCGTG
A/T TGGAGCCTTCCTGGAAAAGATGAAAAAAAAAACAAACAAGGGATTTTAGTTTACACTTTTTATTGTTTTTGCCATATTTTTTTTATTTTCATCGACACTTTGCAAATATATTTGTTTTACAACAATGATCTGTGTGCATTTACACCGTATACAAAATAAAAGGATATGTATATATTTTAAAAACTACTTAAAAACAACTAAATGCTCCTCCTTTTTTGGTTAAATCCATTTAAATGTGACTATTATAGTCATACTGAGTTCAAGGTCCAACAAACGTGTACTGAAGTGTATCAGTACAGATCTGTGAGACTGGAACTGCATTGTCCACACAAAAATTATTCATCAACTTCTTCCTCTGTTAATTCCACATCTCTGATGTAACCGATGAAAGGACTCCACACGTTTTCGAATACATGCTGTTTAGCTTTTAGTATGCAAGTTATCTTTTCTAATGGCAGACTTGACAACATCTGTCTTATCCATTGAGTAGTGTTTGGTCT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| hps5m454/m454 | Homozygous | ♀+/- ♂+/- | 2 figures from Daly et al., 2013 | ||
| hps5m454/m454 (AB) | Homozygous | ♀+/- ♂+/- | Fig. 6  from Stemple et al., 1996 | ||
| hps5m454/+ (AB) | Heterozygous | Unknown | |||
| hps5m454 (AB) | Unknown | Unknown | Fig. for (m454) from Phenotype Annotation (1994-2006) |
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Supplemental Information
- Genotyping protocol
- None
- Daly, C.M., Willer, J., Gregg, R., and Gross, J.M. (2013) snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5. Genetics. 195(2):481-494
- Driever, W., Solnica-Krezel, L., Schier, A.F., Neuhauss, S.C., Malicki, J., Stemple, D.L., Stainier, D.Y., Zwartkruis, F., Abdelilah, S., Rangini, Z., Belak, J., and Boggs, C. (1996) A genetic screen for mutations affecting embryogenesis in zebrafish. Development (Cambridge, England). 123:37-46
- Stemple, D.L., Solnica-Krezel, L., Zwartkruis, F., Neuhauss, S.C., Schier, A.F., Malicki, J., Stainier, D.Y., Abdelilah, S., Rangini, Z., Mountcastle-Shah, E., and Driever, W. (1996) Mutations affecting development of the notochord in zebrafish. Development (Cambridge, England). 123:117-128
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