Strain Data Sheet

RBRC10790

Strain Information

Image
BRC No.RBRC10790
TypeTargeted Mutation and Spontaneous MutationCartagena
SpeciesMus musculus
Strain nameSTOCK Myo6<ksv>/Htak
Former Common nameMyo6 mutant mouse
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeposited by Hirohide Takebayashi, Niigata University in 2019. Mixedd genetic background.
Strain descriptionThe G>A mutation occurs one base before the donor site of exon 12 in the Myo6 genomic sequence.
Colony maintenance
References
A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells.
Yuta Seki, Yuki Miyasaka, Sari Suzuki, Kenta Wada, Shumpei P Yasuda, Kunie Matsuoka, Yasuhiro Ohshiba, Kentaro Endo, Rie Ishii, Hiroshi Shitara, Shin-Ichiro Kitajiri, Naomi Nakagata, Hirohide Takebayashi, Yoshiaki Kikkawa
PLoS One, 12(8):e0183477 (2017). 28832620

Dominant effect of a single amino acid mutation in the motor domain of myosin VI on hearing in mice.
Yuta Seki, Shumpei P Yasuda, Xuehan Hou, Kayoko Tahara, Ornjira Prakhongcheep, Ai Takahashi, Yuki Miyasaka, Hirohide Takebayashi, Yoshiaki Kikkawa
Exp Anim. 2024 Dec 17. 39694491

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Myo6
MGI:104785		myosin VI9Myo6<ksv>
MGI:6153148		Kumamoto skaker/waltzer
  • autosomal dominant nonsyndromic hearing loss 22(DisGeNET, MedGEN)

  • autosomal recessive nonsyndromic hearing loss 37(DisGeNET, MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal auditory brainstem response waveform shape (MP:0011966)

  • abnormal cochlear hair cell stereociliary bundle morphology (MP:0004521)

  • abnormal cuticular plate morphology (MP:0010015)

  • abnormal inner hair cell stereociliary bundle morphology (MP:0004532)

  • abnormal kinocilium morphology (MP:0011060)
    • more 8 phenotypes
  • abnormal orientation of cochlear hair cell stereociliary bundles (MP:0004522)

  • abnormal vestibular hair cell stereociliary bundle morphology (MP:0004515)

  • circling (MP:0001394)

  • decreased cochlear hair cell stereocilia number (MP:0004523)

  • fused inner hair cell stereocilia (MP:0004533)

  • fused outer hair cell stereocilia (MP:0004528)

  • hyperactivity (MP:0001399)

  • impaired hearing (MP:0006325)
    • Detailed phenotype data

    Ordering Information

    Donor DNAadenovirus Splice acceptor (SA) sequence, S. cerevisiae Frt sites, mouse phosphoglycerate kinase (PGK) promoter, E. coli Neomycin resistance gene, SV40 Polyadenylation sequences, human placental alkaline phosphatase (ALPP) cDNA, mouse Gt(ROSA)26Sor genomic DNA
    Research application
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. PLoS One.2017 Aug 23:12(8):e0183477.In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorHirohide Takebayashi (Niigata University)
    Strain Statusan icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    BRC mice in Publications

    No Data