Genomic Feature
b1086
- ID
- ZDB-ALT-071023-1
- Name
- b1086
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- ENU
- Lab of Origin
- Kimmel Lab
- Current Source
- Zebrafish International Resource Center (ZIRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 10: 43597678 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- A>T at position 172 in Exon 2 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Lys>Stop (1)
- Flanking Sequence
-
ACACGTTCCCTCAAAAACAAACAAACAATCCCTCAAAAACAAACACAATCCCTCAAAAACAACCACACGTTCCCTCAAAAACAACCACACGTTCCTTCAAAAACAACCACACGTTCCTTTAAAAACAAACACACGTTCCCTCAAAAACAAACACATGTTCTCTTAAAAGCAACTACATGTTCTTTAAAAAAAACACATAGTCTCTCAAAAACAACCACACGTTCCTTTAAAAACAAACACACGTTCTCTCAAAAACAACCACACGTTCTCTCAAAAACACGTTCTCTTAAAAACAAACACGTTCTCTCAAAAATAACCAAACATTCTCTCAAATACAACCACACGTTCTCACAAAAACAACCACACATTTTCTCAAAACTCTACTGAAACAAAATAGTTAGTCAAAAAAAGGCCAAACTCAACAGGAACTGAGCTGGAACTTACCTCCACGATGTCTGAATTAGTCCGACTCTCGTGCGGCTCGTTGTACTCGGTGTATT
T/A CAGCAGAACTTTGTCCATGTCCGTGCTGGCGTACTGGAAGAGTTTATTAGTGCTGTTGAAGATGATGAGGGCGATCTCACAGTCACACAATACGCTCAGCTCGTAGGCCTTCTTCATCAGTCCAAACTTCCTCTTTGTAAACGTAACCTGATGAACAAAAAAATAATAGAAACTTTACTCTTGGATCAATTAAACAGATTTAGTTCCATGACATGAAATTTTTTAGCTAAATTGACATGTTACACCTAAACGAATTTTTACAGAATTTCACTTACAGAGGGTGCCAAATGTATTATTTAGTATATAATGTAGTACCGTAGAGTTCGCTATATTGGTTTTTTGACATTAGAAATTGACAATGGAAGTTTGACATTTCTATTGTCTGTACTATTTGCAGTATGTTTCTCTATTTGCATGTGTTGTGAGAATTTGCATGCATGCGTGCTGTCCTATTAATGATGTTTTCTCAGTTTGCAAGTGTTTTTCTATTTGCCTGCTTT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| mef2cab1086/b1086 | Homozygous | ♀+/- ♂+/- | 9 figures  from 2 publications | 6 figures from 3 publications | |
| mef2cab1086/b1086 | Homozygous | Unknown | Fig. 2 from Nichols et al., 2016 | 2 figures from Nichols et al., 2016 | |
| mef2cab1086/b1086 | Homozygous | ♀-/- ♂+/- | Fig 5 from Sucharov et al., 2019 | ||
| mef2cab1086/b1086 (AB) | Homozygous | ♀+/- ♂+/- | 2 figures from Delaurier et al., 2014 | Fig. 5 from Delaurier et al., 2014 | |
| mef2cab1086/+ | Heterozygous | Unknown | Fig 4 from Sucharov et al., 2019 | ||
| mef2cab1086/+ (AB) | Heterozygous | Unknown | |||
| mef2cab1086/b1086; b1212Tg | Complex | 2 figures from Nichols et al., 2016 | 2 figures from Nichols et al., 2016 | ||
| mef2cab1086/b1086; b1212Tg | Complex | Fig. 7 from Delaurier et al., 2014 | Fig. 7 from Delaurier et al., 2014 | ||
| mef2cab1086/b1086; b1212Tg; b1252Tg | Complex | Fig. 4 from Nichols et al., 2016 | Fig. 4 from Nichols et al., 2016 | ||
| mef2cab1086/b1086; b1212Tg; pd52Tg | Complex | 2 figures from Nichols et al., 2016 | 2 figures from Nichols et al., 2016 |
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Supplemental Information
- Genotyping protocol
- b1086.pdf
- Adrião, A., Mariano, S., Mariano, J., Gavaia, P.J., Cancela, M.L., Vitorino, M., Conceição, N. (2023) mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour. Biomolecules. 13(5):
- Bailon-Zambrano, R., Sucharov, J., Mumme-Monheit, A., Murry, M., Stenzel, A., Pulvino, A.T., Mitchell, J.M., Colborn, K.L., Nichols, J. (2022) Variable paralog expression underlies phenotype variation. eLIFE. 11:
- Kula-Alwar, D., Marber, M.S., Hughes, S.M., Hinits, Y. (2020) Mef2c factors are required for early but not late addition of cardiomyocytes to the ventricle. Developmental Biology. 470:95-107
- Sucharov, J., Ray, K., Brooks, E.P., Nichols, J.T. (2019) Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway. PLoS Genetics. 15:e1008507
- Nichols, J.T., Blanco-Sánchez, B., Brooks, E.P., Parthasarathy, R., Dowd, J., Subramanian, A., Nachtrab, G., Poss, K.D., Schilling, T.F., Kimmel, C.B. (2016) Ligament versus bone cell identity in the zebrafish hyoid skeleton is regulated by mef2ca. Development (Cambridge, England). 143(23):4430-4440
- Mosimann, C., Panáková, D., Werdich, A.A., Musso, G., Burger, A., Lawson, K.L., Carr, L.A., Nevis, K.R., Sabeh, M.K., Zhou, Y., Davidson, A.J., DiBiase, A., Burns, C.E., Burns, C.G., MacRae, C.A., Zon, L.I. (2015) Chamber identity programs drive early functional partitioning of the heart. Nature communications. 6:8146
- Delaurier, A., Huycke, T.R., Nichols, J.T., Swartz, M.E., Larsen, A., Walker, C., Dowd, J., Pan, L., Moens, C.B., and Kimmel, C.B. (2014) Role of mef2ca in developmental buffering of the zebrafish larval hyoid dermal skeleton. Developmental Biology. 385(2):189-99
- Hinits, Y., Pan, L., Walker, C., Dowd, J., Moens, C.B., and Hughes, S.M. (2012) Zebrafish Mef2ca and Mef2cb are essential for both first and second heart field cardiomyocyte differentiation. Developmental Biology. 369(2):199-210
- Miller, C.T., Swartz, M.E., Khuu, P.A., Walker, M.B., Eberhart, J.K., and Kimmel, C.B. (2007) mef2ca is required in cranial neural crest to effect Endothelin1 signaling in zebrafish. Developmental Biology. 308(1):144-157
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