C57BL/6JCya-Krt86em1flox/Cya
Common Name:
Krt86-flox
Product ID:
S-CKO-18223
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Krt86-flox
Strain ID
CKOCMP-16679-Krt86-B6J-VB
Gene Name
Product ID
S-CKO-18223
Gene Alias
5430421N21Rik; Khb4; Krt2-10; Krt2-11; MHb4
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
15
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Krt86em1flox/Cya mice (Catalog S-CKO-18223) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000088049
NCBI RefSeq
NM_010667.2
Target Region
Exon 3
Size of Effective Region
~561 bp
Detailed Document
Overview of Gene Research
Krt86, a type II hair keratin gene, is crucial for the structure and integrity of hair shafts. It is also associated with uterine receptivity during embryo implantation, with its expression regulated by oestradiol and progesterone [4]. Mutations in Krt86 are linked to monilethrix, an autosomal dominant hair disorder [1,2,3,5,6,7,8].
Multiple studies have identified various Krt86 mutations in families with monilethrix. These mutations lead to fragile and easily-breakable hairs, often accompanied by follicular hyperkeratosis and scarring alopecia [1]. Some mutations, like the c.1231G>T;p.Glu411* in a Turkish family [2], the R430Q (KRT86) in a Han family [3], and a heterozygous transversion c.1204G > A (p.E402K) in a Chinese Han family [7], have been found to be pathogenic for monilethrix. Additionally, a novel A280V (c.839C > T substitution) mutation in the coil 2A region of Krt86 was identified in a Tasmanian family, expanding the spectrum of mutations associated with monilethrix [8].
In conclusion, Krt86 is essential for normal hair development and uterine function during implantation. Research on Krt86 mutations in monilethrix patients has enhanced our understanding of the genetic basis of this hair disorder, potentially guiding future diagnostic and therapeutic strategies for monilethrix.
References:
1. van Steensel, Maurice, Vreeburg, Maaike, Urbina, Maria T, Morice-Picard, Fanny, van Geel, Michel. . Novel KRT83 and KRT86 mutations associated with monilethrix. In Experimental dermatology, 24, 222-4. doi:10.1111/exd.12624. https://pubmed.ncbi.nlm.nih.gov/25557232/
2. Redler, S, Pasternack, S M, Wolf, S, Nöthen, M M, Betz, R C. 2015. A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. In Clinical and experimental dermatology, 40, 781-5. doi:10.1111/ced.12631. https://pubmed.ncbi.nlm.nih.gov/25809918/
3. Wu, Jin, Lin, Yongli, Xu, Wenrong, Li, Zhongming, Fan, Weixin. . A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. In Journal of biomedical research, 25, 49-55. doi:10.1016/S1674-8301(11)60006-7. https://pubmed.ncbi.nlm.nih.gov/23554671/
4. Zhang, He, Zhao, Huashan, Wang, Xi, Cui, Xiaolin, Jin, Lingling. 2020. Keratin 86 is up-regulated in the uterus during implantation, induced by oestradiol. In BMC developmental biology, 20, 3. doi:10.1186/s12861-020-0208-6. https://pubmed.ncbi.nlm.nih.gov/32028879/
5. Deng, Ying, Xia, Dengmei, Wang, Lian, Li, Mengmeng, Li, Wei. 2018. Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix. In The Journal of dermatology, 45, e298-e300. doi:10.1111/1346-8138.14339. https://pubmed.ncbi.nlm.nih.gov/29701253/
6. Dai, Ru, Wang, Tingting, Wu, Xianjie. 2024. Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family. In Anais brasileiros de dermatologia, 99, 606-609. doi:10.1016/j.abd.2022.12.010. https://pubmed.ncbi.nlm.nih.gov/38594178/
7. Ye, Zhen-zhen, Nan, Xu, Zhao, Hong-shan, Chen, Xue-rong, Song, Qing-hua. . Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. In Chinese medical journal, 126, 3103-6. doi:. https://pubmed.ncbi.nlm.nih.gov/23981620/
8. De Cruz, R, Horev, L, Green, J, Zlotogorski, A, Sinclair, R. . A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. In The British journal of dermatology, 166 Suppl 2, 20-6. doi:10.1111/j.1365-2133.2012.10861.x. https://pubmed.ncbi.nlm.nih.gov/22670615/
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