C57BL/6JCya-Hmx1em1flox/Cya
Common Name:
Hmx1-flox
Product ID:
S-CKO-02914
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Hmx1-flox
Strain ID
CKOCMP-15371-Hmx1-B6J-VA
Gene Name
Product ID
S-CKO-02914
Gene Alias
Nkx5-3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Hmx1em1flox/Cya mice (Catalog S-CKO-02914) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000087674
NCBI RefSeq
NM_010445
Target Region
Exon 2
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
Hmx1, also known as H6 family homeobox 1, is a homeobox-containing transcription factor. It plays a crucial role in regulating multiple aspects of craniofacial development, being widely expressed in the eye, peripheral ganglia, and branchial arches [1,2]. Mutations in Hmx1 are associated with an ocular defect called Oculo-auricular syndrome of Schorderet-Munier-Franceschetti (MIM #612109) [1,2]. Genetic models, such as zebrafish and mice, are valuable for studying Hmx1's functions.
In zebrafish, knockdown of hmx1 led to microphthalmia, delayed withdrawal of retinal progenitors from the cell cycle, and increased cell death in the retina and brain, suggesting its importance in retinogenesis [3]. hmx1 -mutant zebrafish also showed premature vertebral mineralization, with changes in the expression of genes related to the BMP signaling pathway [2]. In mice, Hmx1dm/dm embryos had marked defects in the geniculate (VII) ganglion, with a reduction in general somatosensory neurons likely due to increased cell death [4]. In addition, duplications involving the long-range Hmx1 enhancer are associated with human isolated bilateral concha-type microtia [5]. In Awassi sheep, a duplication in part of the ECR near Hmx1 is related to microtia [6].
In conclusion, Hmx1 is essential for craniofacial development, retinogenesis, and the development of somatosensory neurons in the geniculate ganglion. Research using gene-knockout models in zebrafish and mice has revealed its role in various biological processes and its association with human and animal congenital defects such as oculo-auricular syndrome and microtia, providing insights into the underlying mechanisms of these diseases [1-5,9].
References:
1. El Fersioui, Younes, Pinton, Gaëtan, Allaman-Pillet, Nathalie, Schorderet, Daniel F. 2021. Hmx1 regulates urfh1 expression in the craniofacial region in zebrafish. In PloS one, 16, e0245239. doi:10.1371/journal.pone.0245239. https://pubmed.ncbi.nlm.nih.gov/33465110/
2. El Fersioui, Younes, Pinton, Gaëtan, Allaman-Pillet, Nathalie, Schorderet, Daniel F. 2022. Premature Vertebral Mineralization in hmx1-Mutant Zebrafish. In Cells, 11, . doi:10.3390/cells11071088. https://pubmed.ncbi.nlm.nih.gov/35406651/
3. Boisset, Gaëlle, Schorderet, Daniel F. 2012. Zebrafish hmx1 promotes retinogenesis. In Experimental eye research, 105, 34-42. doi:10.1016/j.exer.2012.10.002. https://pubmed.ncbi.nlm.nih.gov/23068565/
4. Quina, Lely A, Tempest, Lynne, Hsu, Yun-Wei A, Cox, Timothy C, Turner, Eric E. . Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion. In Developmental biology, 365, 152-63. doi:. https://pubmed.ncbi.nlm.nih.gov/22586713/
5. Si, Nuo, Meng, Xiaolu, Lu, Xiaosheng, Jiang, Haiyue, Zhang, Xue. 2020. Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. In Journal of translational medicine, 18, 244. doi:10.1186/s12967-020-02409-6. https://pubmed.ncbi.nlm.nih.gov/32552830/
6. Jawasreh, Khaleel I Z, Al-Omari, Haitham Daif-Allah. 2020. Duplication in ECR Near HMX1 and a SNP in GATA6 Genes Regulate Microtia in Awassi Sheep. In Genes, 11, . doi:10.3390/genes11060597. https://pubmed.ncbi.nlm.nih.gov/32481741/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen