Genomic Feature
z43
- ID
- ZDB-ALT-180925-11
- Name
- z43
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Grunwald Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 18: 35671450 - 35671454 (GRCz11) (1) Details
- Nucleotide change
- CTCTG/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 5 bp deleted in Exon 6 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
CAGTCAAGATTGAGAGCACTGTTGTCTTACTTGCGCTCCTCCTCTCCCTGATCAGGTGTTGAGATAGCCAGACACTCATCCATGTGACCATGAAACAGTCTTAGGACATGACCTCCAGTTAAGTACCCTGAAAATATAGCAATTTAAAGCTCAAGCATCTTTTGCGAATTACAGATATATTTCAGCACATTTATAATTTAACATTTTTTTTTTATCTATAATGATTGATAATCTTGCTGAAGTCTCACCCTCTGCCAGCTCGCAGCCTGAACAGACTGGATTCATGTTCCATAAGGTCTGCATGAAGGAGGCATCAACCATCAGGTCTCCACTGGCGTATGACAGATGCTGCAAAAGTCATCACAGGCATCAGCTATGCAGAGGTTTGTGTTTGATATTGCTGGTTTGCCAAGGATTCAGGAAGTCTTACAAGATATCTCTCGGATGACACGCTGACAAGGATCAGGTCGTCTCCTACTCTGACCTTCTCACCCTCGGAT
CTCTG/- TTTGGATGCAGGATGGATGGTCCACCAACATGCTTCCCCTGAACACAGTAAAAAATAAACTGTTAAATTATTCTAACATACATTTGTTTGATATACTGACACAATTAAAATTATATAATGTTTTATTTTGCAACAACAAAGGTATTTTATGTAAATATGCAAGACGTCTGATTAATTAACTGATTTACTGTTGGTAAATAAGAATAACGAAGAGCAGTAAACAGTAATGCAAATGAAACCAAAGTATTTGCACTATTAACCAGCATGTGGCTGTAATTACGACGACACATTCAAGCAATAAATATAAATAAAACAATACAATATTGGCACTATTAATCAGAATGACAAGCTTATTTGTTAAGCTAAATACCAAGATCTAATAATAATAATAATAATAATTATAATAATAATAATAATAATAATAAAATAACTATTATTATTATTACTATTAGTAGTAGTGGTAGTAGTAGTAGTAGTAGTAATAGTAGTAGTAGTAGTAG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ryr1bz43/z43 | Homozygous | ♀+/- ♂+/- | 2 figures  from Chagovetz et al., 2019 | Fig. S2 from Chagovetz et al., 2019 | |
| ryr1az42/z42; ryr1bz43/z43 | Complex | Fig. 3 from Chagovetz et al., 2019 | |||
| ryr1bz43/z43; ryr3z45/z45 | Complex | Fig. 3 from Chagovetz et al., 2019 | |||
| ryr1az42/z42; ryr1bz43/z43; ryr3z45/z45 | Complex | Fig. 1 from Klatt Shaw et al., 2018 | Fig. 2 from Klatt Shaw et al., 2018 | ||
| ryr1az42/z42; ryr1bz43/z43; ryr3z45/z45 | Complex | 2 figures from Chagovetz et al., 2019 | |||
| ryr1az42/z42; ryr1bz43/z43; ryr3z45/z45 | Complex |
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Supplemental Information
- Genotyping protocol
- None
- Chagovetz, A.A., Klatt Shaw, D., Ritchie, E., Hoshijima, K., Grunwald, D.J. (2019) Interactions among Ryanodine Receptor isotypes contribute to muscle fiber type development and function. Disease models & mechanisms. 13(2):
- Klatt Shaw, D., Gunther, D., Jurynec, M.J., Chagovetz, A.A., Ritchie, E., Grunwald, D.J. (2018) Intracellular Calcium Mobilization Is Required for Sonic Hedgehog Signaling. Developmental Cell. 45(4):512-525.e5
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