Strain Data Sheet

RBRC01273

Strain Information

Image
BRC No.RBRC01273
TypeSpontaneous Mutation
SpeciesMus musculus
Strain namesey (small eye) DBA/2 x B6
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Dr. Kunieda, Gifu University.
Strain descriptionMice homozygous for sey are embyronic lethality. Heterozygote mutant mice have small eyes, small or lacking lens.
Colony maintenanceSibling Mating (Heterozygote x Wild, Heterozygote)
References

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Pax6paired box 62Pax6
  • aniridia 1(MedGEN)

  • aniridia(DisGeNET)

  • autosomal dominant keratitis(MedGEN)
  • more 5 Diseases
  • coloboma of optic nerve(MedGEN)

  • coloboma, ocular, autosomal dominant(MedGEN)

  • foveal hypoplasia 1(MedGEN)

  • Peters anomaly(MedGEN)

  • WAGR syndrome(DisGeNET, MedGEN)
  • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal anterior eye segment morphology(MP:0005193)

  • abnormal brain development(MP:0000913)

  • abnormal cerebellar granule cell morphology(MP:0004098)

  • abnormal cerebellum external granule cell layer morphology(MP:0000872)

  • abnormal cerebellum morphology(MP:0000849)
  • more 65 phenotypes
  • abnormal cerebellum vermis morphology(MP:0000864)

  • abnormal cerebral cortex morphology(MP:0000788)

  • abnormal cornea endothelium morphology(MP:0005301)

  • abnormal cornea epithelium morphology(MP:0006000)

  • abnormal cornea morphology(MP:0001312)

  • abnormal craniofacial bone morphology(MP:0002116)

  • abnormal craniofacial development(MP:0003935)

  • abnormal diencephalon morphology(MP:0000830)

  • abnormal embryonic/fetal subventricular zone morphology(MP:0004274)

  • abnormal eye anterior chamber morphology(MP:0005205)

  • abnormal forebrain development(MP:0003232)

  • abnormal iridocorneal angle(MP:0004221)

  • abnormal lens development(MP:0005545)

  • abnormal lens epithelium morphology(MP:0003237)

  • abnormal lens fiber morphology(MP:0002840)

  • abnormal lens morphology(MP:0001303)

  • abnormal lens vesicle development(MP:0001292)

  • abnormal maxillary shelf morphology(MP:0004538)

  • abnormal nasal bone morphology(MP:0000102)

  • abnormal nasal capsule morphology(MP:0004726)

  • abnormal nasal cavity morphology(MP:0002237)

  • abnormal nasal pit morphology(MP:0006306)

  • abnormal neuron differentiation(MP:0009937)

  • abnormal nose morphology(MP:0002233)

  • abnormal optic cup morphology(MP:0004269)

  • abnormal optic nerve morphology(MP:0001330)

  • abnormal optic vesicle formation(MP:0003425)

  • abnormal pretectal region morphology(MP:0009637)

  • abnormal respiratory system development(MP:0003115)

  • abnormal retina morphology(MP:0001325)

  • abnormal retina photoreceptor layer morphology(MP:0003728)

  • abnormal retina pigment epithelium morphology(MP:0005201)

  • abnormal spinal cord interneuron morphology(MP:0004100)

  • abnormal synaptic transmission(MP:0003635)

  • abnormal telencephalon development(MP:0000934)

  • abnormal thalamus morphology(MP:0000832)

  • absent lens vesicle(MP:0009725)

  • absent nasal pit(MP:0030060)

  • absent nasal placodes(MP:0006293)

  • absent olfactory bulb(MP:0003451)

  • absent snout(MP:0000450)

  • anophthalmia(MP:0001293)

  • anterior iris synechia(MP:0011481)

  • aphakia(MP:0003078)

  • coloboma(MP:0005262)

  • cornea vascularization(MP:0005542)

  • craniofacial phenotype(MP:0005382)

  • decreased body size(MP:0001265)

  • decreased embryo size(MP:0001698)

  • decreased eye pigmentation(MP:0005172)

  • delayed eyelid fusion(MP:0009265)

  • ectopic Purkinje cell(MP:0000885)

  • microphthalmia(MP:0001297)

  • neonatal lethality, complete penetrance(MP:0011087)

  • nervous system phenotype(MP:0003631)

  • perinatal lethality, incomplete penetrance(MP:0011090)

  • respiratory failure(MP:0001953)

  • short snout(MP:0000445)

  • small lens(MP:0001306)

  • small thalamus(MP:0020527)

  • supernumerary incisors(MP:0006369)

  • taste/olfaction phenotype(MP:0005394)

  • thin cerebral cortex(MP:0006254)

  • thin cortical plate(MP:0008441)

  • vision/eye phenotype(MP:0005391)
  • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationSensorineural Research
    Specific Term and ConditionsNo specific terms and conditions. (The DEPOSITOR waives its own rights under any patents, intellectual property, or other proprietary rights with respect to the results to be obtained by use of the BIOLOGICAL RESOURCE.)
    DepositorTakahiro Kunisada (Gifu University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved embryos (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)
    Lab HP (Japanese)
    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data