Strain Data Sheet

RBRC11929

Strain Information

Image
BRC No.RBRC11929
TypeCRISPR/Cas9Cartagena
SpeciesMus musculus
Strain nameC57BL/6N-Tmem53<em1Ikeg>
Former Common nameTmem53 KO
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain description
Colony maintenance
References
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-Yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta M Girisha, Shiro Ikegawa
Nat. Commun., 12(1):2046 (2021). 33824347

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Tmem53
MGI:1916027		transmembrane protein 534Tmem53<em1Ikeg>
MGI:6723864		endonuclease-mediated mutation 1, Shiro Ikegawa

Phenotype

Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal basicranium morphology (MP:0010029)

  • abnormal bone structure (MP:0003795)

  • abnormal coronal suture morphology (MP:0003840)

  • abnormal long bone diaphysis morphology (MP:0004214)

  • abnormal osteoblast physiology (MP:0005006)
    • more 13 phenotypes
  • craniofacial hyperostosis (MP:0030417)

  • decreased body height (MP:0001255)

  • enhanced osteoblast differentiation (MP:0011710)

  • high forehead (MP:0030032)

  • increased bone ossification (MP:0020039)

  • increased long bone epiphyseal plate size (MP:0006398)

  • ocular hypertelorism (MP:0001300)

  • optic canal stenosis (MP:0030469)

  • platyspondylia (MP:0011175)

  • short femur (MP:0003109)

  • short limbs (MP:0000547)

  • short metatarsal bones (MP:0004635)

  • thick neurocranium (MP:0030278)
    • Detailed phenotype data

    Ordering Information

    Donor DNAマウス Cas9 (Streptococcus pyogenes), マウス gRNA (人工)
    Research applicationDevelopmental Biology Research
    Mouse Models for Human Disease
    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. Nat. Commun., 12(1):2046 (2021).In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorShiro Ikegawa (RIKEN IMS)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovery and QC required prior to distribution
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: CRISPR/Cas9 genome edited bioresources (Japanese / English)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    BRC mice in Publications

    No Data