Genomic Feature
hg13
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 20: 1387307 - 1387344 (GRCz11) (1) Details
- Nucleotide change
- GCTGGTATAATGCAGTGCTCACCGCTGCTCATCATCTG/TGCACCATTATGGCTCACCATCGCTGCT
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 28 bp inserted / 39 bp deleted (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
GGTAGCGTATTATACTACTGTAGAAATATAATTGATTTATTATATTGATTTATTATTATTTACATGTGTAGCACATTGCTAGCTCTGCTTGAGTCACTAAAAGTAAAACTGCTTTGCAAATGTAGCATATGGGTCATTTAAAACCAGTTGTATTAAGTATAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATATAATATAATAATAATAACAAACAAGAGCACTCATATATGGCATGTTTAGCCCAGATTAAAATACACTTAGTCAAGTGGCTCAATGCATGCAGAGATAATGTAATATATAGTGCATCCTGCAACATATAATTTGCATCACATTAGAATAAAATTAGCATTAAATACTGGTCTCCGAGGGACTGATAAGTGTGTGTGTGTTTGTTGTGCAGGTGG
GCTGGTATAATGCAGTGCTCACCGCTGCTCATCATCTG/TGCACCATTATGGCTCACCATCGCTGCT CAGTATCCAGCAGACACTCTGGCTGTGCTGGTCATCAGCACTCCTGCCATGTTTGAGTGTGCATTCCTGCCCTTCTTACAGAGCCAGAGCTGCGAGAGCCTCAGAGACCCCATAGACCAGTGCACGGCACACACACTGTCTGCCTGCATCTCTCTGGTACAGTACTGCAATACTGTGTGTCCCACATAAATACCGCCTGTTATACAGCAACACAACTTGTCATACTGTAATACAGCAACACAACCTTTCATACCGCAATACAACCTAGGGTTGGGTGATGTTGACCAGTTTGGCATCGTACGATGTCTAATGTGAAACATCGCGATGGACGATGGCATCGTCGTCGTAGGGTGGGGGTGGTTGTTATTGTTAAATATCAATTAATTCATAATGAAATAATTAATTGTAGCCTACCGTTTTCACTACCTATGGTCTTTGCTTCTTTCATAACCAAACCATTAATAAGTAAAGTTACAAACAAATGACCACCTGTCAATCAC - Additional Sequence
- None
Fish
Supplemental Information
- Genotyping protocol
- None
- Paz, D., Pinales, B.E., Castellanos, B.S., Perez, I., Gil, C.B., Madrigal, L.J., Reyes-Nava, N.G., Castro, V.L., Sloan, J.L., Quintana, A.M. (2023) Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant. Differentiation; research in biological diversity. 131:748174-81
- Sloan, J.L., Achilly, N.P., Arnold, M.L., Catlett, J.L., Blake, T., Bishop, K., Jones, M., Harper, U., English, M.A., Anderson, S., Trivedi, N.S., Elkahloun, A., Hoffmann, V., Brooks, B.P., Sood, R., Venditti, C.P. (2020) The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology. Human molecular genetics. 29(13):2109-2123
- Sood, R., Carrington, B., Bishop, K., Jones, M., Rissone, A., Candotti, F., Chandrasekharappa, S.C., and Liu, P. (2013) Efficient Methods for Targeted Mutagenesis in Zebrafish Using Zinc-Finger Nucleases: Data from Targeting of Nine Genes Using CompoZr or CoDA ZFNs. PLoS One. 8(2):e57239
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