C57BL/6NCya-Tbc1d32em1flox/Cya
Common Name:
Tbc1d32-flox
Product ID:
S-CKO-11767
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tbc1d32-flox
Strain ID
CKOCMP-544696-Tbc1d32-B6N-VA
Gene Name
Product ID
S-CKO-11767
Gene Alias
Bromi; C6orf170; D630037F22Rik; b2b2284Clo
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Tbc1d32em1flox/Cya mice (Catalog S-CKO-11767) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000099739
NCBI RefSeq
NM_001033385
Target Region
Exon 5~8
Size of Effective Region
~2.7 kb
Detailed Document
Overview of Gene Research
Tbc1d32, also known as BROMI, is a gene involved in the development and function of cilia. It interacts with proteins like CCRK/CDK20 and FAM149B1/JBTS36 to regulate intraflagellar transport turnaround involving ICK/CILK1, which is crucial for cilia-related processes [3]. It is also implicated in pathways such as Sonic Hedgehog (Shh) signaling [4].
In loss-of-function studies, Tbc1d32 variants have been associated with multiple diseases. In humans, biallelic loss-of-function variants in Tbc1d32 underlie syndromic hypopituitarism, potentially via disrupted Shh signaling [4]. Variants in Tbc1d32 disrupt retinal ciliogenesis, leading to retinitis pigmentosa, with defects in photoreceptor differentiation and retinoid cycling [1,5]. Also, rare likely pathogenic variants in Tbc1d32 segregate with recessive disease, expanding the phenotypic spectrum of a complex ciliopathy, including a severe prenatal phenotype [2].
In conclusion, Tbc1d32 plays a critical role in cilia-related biological processes and is associated with diseases such as retinitis pigmentosa, syndromic hypopituitarism, and ciliopathies. Functional studies, especially those involving loss-of-function models, have been instrumental in revealing these associations, providing insights into the underlying disease mechanisms.
References:
1. Bocquet, Béatrice, Borday, Caroline, Erkilic, Nejla, Perron, Muriel, Kalatzis, Vasiliki. 2023. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. In JCI insight, 8, . doi:10.1172/jci.insight.169426. https://pubmed.ncbi.nlm.nih.gov/37768732/
2. Harris, Sarah C, Chong, Karen, Chitayat, David, Davis, Erica E, Vora, Neeta L. 2023. Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy. In American journal of medical genetics. Part A, 191, 1282-1292. doi:10.1002/ajmg.a.63150. https://pubmed.ncbi.nlm.nih.gov/36826837/
3. Satoda, Yuuki, Noguchi, Tatsuro, Fujii, Taiju, Katoh, Yohei, Nakayama, Kazuhisa. 2022. BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1. In Molecular biology of the cell, 33, ar79. doi:10.1091/mbc.E22-03-0089. https://pubmed.ncbi.nlm.nih.gov/35609210/
4. Hietamäki, Johanna, Gregory, Louise C, Ayoub, Sandy, Dattani, Mehul T, Raivio, Taneli. . Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. In The Journal of clinical endocrinology and metabolism, 105, 1748-58. doi:10.1210/clinem/dgaa078. https://pubmed.ncbi.nlm.nih.gov/32060556/
5. Sangermano, Riccardo, Place, Emily M, Pierce, Eric A, Bujakowska, Kinga M. . Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration. In Advances in experimental medicine and biology, 1468, 41-44. doi:10.1007/978-3-031-76550-6_7. https://pubmed.ncbi.nlm.nih.gov/39930170/
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