Genomic Feature
mw702
- ID
- ZDB-ALT-150611-2
- Name
- mw702
- Synonyms
-
- R51_F52del (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Semina Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 1: 24076774 - 24076779 (GRCz11) (1) Details
- Nucleotide change
- CGTTTC/-
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 6 bp deleted from position 151 to 156 (1)
- Transcript Consequence
- Frameshift (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
AGTCTGGACAACTGCACACTGGCACACAGTTTTGACGCGCAAACACAAGTGAGAGATGATGACATGATGCGCGGAGATTCATCCTGCAGCTGATACTGGCTCGGAGAGCAAGTTAAACCCTTAAAACCTTTTTTTAAGTTGAGTTGAAGAAGTCGCACTGTCTTGGATCCATCCGTTTCCTGGTCCAAACTTGACGTCTATCCGCTGCGGGCGCAAACTTCATCATCACTTGATCTTTTGTTTTTTTGTTTTTCTTTTCCTGGGAGTTGTGCCTCTGGCTTCACCGGTAAGCATTGGATCCATCGGCGTACTGCGAAACTCCGGTCTACAGTCCGGATCTGTGCCCAAACATGATTGCAACGCAAGCAAAGCTGGTTTACCAGCTTAATAAATATTACAACGAAAGATGCCAGGCGCGCAAAGCGGCCATCGCCAAGACCATACGAGAGGTGTGTAAGGTGGTGTCGGATGTGCTGAAGGAGGTGGAGGTCCAAGAGCCC
CGTTTC/- ATCAGCTCCCTGAGCGAGATAGACGCGCGCTATGAGGGCATGGAGGTCATCGCACCCAACGAGTTTGAGGTCGTACTTTACCTGAACCAGATGGGGGTGTTCAACTTTGTAGACGATGGCTCTCTGCCGGGCTGCGCGGTGCTCAAGCTCAGCGACGGCCGCAAGAGGAGCATGTCCCTGTGGGTGGAGTTCATCACCGCCTCCGGTTATCTATCGGCACGAAAGATTCGCTCCCGCTTTCAGACGCTGGTTGCCCAGGCCGTGGATAAATGCAGCTACCGGGACGTGGTTAAGATGGTGGCGGACACGAGCGAAGTGAAACTGCGCATTCGGGAGAGATACGTCGTGCAAATCACCCCGGCCTTCAAGTGCACGGGCATCTGGCCTAGGAGTGCCGCTCAGTGGCCCATGCCTCACATCCCGTGGCCCGGGCCGAACCGGGTGGCGGAGGTAAAAGCGGAGGGGTTTAACCTGCTCTCTAAAGAGTGCTACTCATTGAC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| mab21l2mw702/mw702 | Homozygous | ♀+/- ♂+/- | 5 figures  from 2 publications | 2 figures from Deml et al., 2015 | |
| mab21l2mw702/+; mab21l2mw715/+ | Complex | Fig. 2 from Ceroni et al., 2024 | |||
| mab21l2mw702/mw702; hspa8hi138Tg/hi138Tg | Complex | Fig. 4 from Seese et al., 2022 | |||
| mab21l2mw702/mw702; hspa8hi138Tg/+ | Complex | Fig. 4 from Seese et al., 2022 | |||
| mab21l2mw702/+; hspa8hi138Tg/hi138Tg | Complex | Fig. 4 from Seese et al., 2022 |
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Supplemental Information
- Genotyping protocol
- None
- Ceroni, F., Cicekdal, M.B., Holt, R., Sorokina, E., Chassaing, N., Clokie, S., Naert, T., Talbot, L.V., Muheisen, S., Bax, D.A., Kesim, Y., Kivuva, E.C., Vincent-Delorme, C., Lienkamp, S.S., Plaisancié, J., De Baere, E., Calvas, P., Vleminckx, K., Semina, E.V., Ragge, N.K. (2024) Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. Nature communications. 15:92459245
- Seese, S.E., Muheisen, S., Gath, N., Gross, J.M., Semina, E.V. (2022) Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. Developmental Dynamics : an official publication of the American Association of Anatomists. 252(4):510-526
- Deml, B., Kariminejad, A., Borujerdi, R.H., Muheisen, S., Reis, L.M., Semina, E.V. (2015) Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts. PLoS Genetics. 11:e1005002
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