Gene
musk
- ID
- ZDB-GENE-030131-6458
- Name
- muscle, skeletal, receptor tyrosine kinase
- Symbol
- musk Nomenclature History
- Previous Names
-
- fj98e12
- si:busm1-57f23.3 (1)
- si:dz46m7.2
- si:dz57f23.3
- unp
- unplugged
- wu:fj98e12
- zgc:63467
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Enables identical protein binding activity. Acts upstream of or within motor neuron axon guidance; negative regulation of axon extension; and neuromuscular junction development. Located in postsynaptic membrane. Is expressed in adaxial cell; musculature system; pectoral fin; and somite. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 9 and fetal akinesia deformation sequence syndrome 1. Orthologous to human MUSK (muscle associated receptor tyrosine kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63467 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la011794Tg | Transgenic insertion | Unknown | Unknown | DNA | |
musk_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
p31cd | Allele with one point mutation | Unknown | Missense | ENU | |
sa1030 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa17664 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa34861 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa41603 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa41604 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa41605 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
tbb72 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-musk | Xue et al., 2023 | |
MO1-musk | N/A | (4) |
MO2-musk | N/A | (4) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myasthenic syndrome 9 | Alliance | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 616325 |
fetal akinesia deformation sequence syndrome 1 | Alliance | Fetal akinesia deformation sequence 1 | 208150 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Cell Adhesion and Cytoskeletal Organization | Frizzled cysteine-rich domain superfamily | Frizzled domain | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Kringle | Kringle, conserved site | Kringle-like fold | Kringle superfamily | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q8JFU3 | InterPro | 351 | ||||||||||||||||||||
UniProtKB:Q5J1R8 | InterPro | 676 | ||||||||||||||||||||
UniProtKB:Q5J1R9 | InterPro | 941 | ||||||||||||||||||||
UniProtKB:A0AB32U251 | InterPro | 306 |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(hsp70l:musk-002-MYC) |
|
| 1 | (4) | |
Tg(hsp70l:musk-003-MYC) |
|
| 1 | (4) | |
Tg(smyhc1:musk-002-MYC) |
|
| 1 | (3) | |
Tg(smyhc1:musk-003-MYC) |
|
| 1 | (4) |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEYP-84G6 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-32F19 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-179D18 | ZFIN Curated Data | |
Contained in | PAC | BUSM1-46M7 | ||
Contained in | PAC | BUSM1-57F23 | ZFIN Curated Data | |
Encodes | EST | fj98e12 | ||
Encodes | cDNA | cssl:d196 | Bushell et al., 2007 | |
Encodes | cDNA | cssl:d830 | Bushell et al., 2007 | |
Encodes | cDNA | cssl:d831 | Bushell et al., 2007 | |
Encodes | cDNA | MGC:63467 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001004503 (1) | 4213 nt | ||
Genomic | GenBank:CR376801 (1) | 199715 nt | ||
Polypeptide | UniProtKB:Q5J1R9 (1) | 941 aa |
- Xue, N., Liu, X., Zhang, D., Wu, Y., Zhong, Y., Wang, J., Fan, W., Jiang, H., Zhu, B., Ge, X., Gonzalez, R.V.L., Chen, L., Zhang, S., She, P., Zhong, Z., Sun, J., Chen, X., Wang, L., Gu, Z., Zhu, P., Liu, M., Li, D., Zhong, T.P., Zhang, X. (2023) Improving adenine and dual base editors through introduction of TadA-8e and Rad51DBD. Nature communications. 14:12241224
- Lu, S., Lyu, Z., Wang, Z., Kou, Y., Liu, C., Li, S., Hu, M., Zhu, H., Wang, W., Zhang, C., Kuan, Y.S., Liu, Y.W., Chen, J., Tian, J. (2021) Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish. Theranostics. 11:2788-2805
- Walker, L.J., Roque, R.A., Navarro, M.F., Granato, M. (2021) Agrin/Lrp4 signal constrains MuSK-dependent neuromuscular synapse development in appendicular muscle. Development (Cambridge, England). 148(21):
- Gribble, K.D., Walker, L.J., Saint-Amant, L., Kuwada, J.Y., Granato, M. (2018) The synaptic receptor Lrp4 promotes peripheral nerve regeneration. Nature communications. 9:2389
- McMacken, G., Cox, D., Roos, A., Müller, J., Whittaker, R., Lochmüller, H. (2018) The Beta-Adrenergic Agonist Salbutamol Modulates Neuromuscular Junction Formation in Zebrafish Models of Human Myasthenic Syndromes. Human molecular genetics. 27(9):1556-1564
- Guillon, E., Bretaud, S., Ruggiero, F. (2016) Slow Muscle Precursors Lay Down a Collagen XV Matrix Fingerprint to Guide Motor Axon Navigation. The Journal of neuroscience : the official journal of the Society for Neuroscience. 36:2663-76
- Wang, L., Mongera, A., Bonanomi, D., Cyganek, L., Pfaff, S.L., Nüsslein-Volhard, C., Marquardt, T. (2014) A conserved axon type hierarchy governing peripheral nerve assembly. Development (Cambridge, England). 141:1875-83
- Challa, A.K., and Chatti, K. (2013) Conservation and Early Expression of Zebrafish Tyrosine Kinases Support the Utility of Zebrafish as a Model for Tyrosine Kinase Biology. Zebrafish. 10(3):264-74
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Gordon, L.R., Gribble, K.D., Syrett, C.M., and Granato, M. (2012) Initiation of synapse formation by Wnt-induced MuSK endocytosis. Development (Cambridge, England). 139(5):1023-1033
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