Strain Data Sheet

RBRC00333

Strain Information

Image
BRC No.RBRC00333
TypeSpontaneous Mutation Congenic
SpeciesMus musculus
Strain nameB6.LIII-Sgk3<fz> Mlph<ln> Cdh23<v> Hps1<ep>/Rbrc
Former Common nameLIII
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain development
Strain description
Colony maintenance
References
Chromosomal localization of a gene responsible for vestibulocochlear defects of BUS/Idr mice: identification as an allele of waltzer.
Yonezawa S, Yoshiki A, Hanai A, Matsuzaki T, Matsushima J, Kamada T, Kusakabe M
Hear. Res., 134, 116-122 (1999). 10452381

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Mlph
MGI:2176380		melanophilin1Mlph<ln>
MGI:1856674		leaden
  • Griscelli syndrome type 3(MedGEN)
    • Sgk3
    MGI:2182368    		serum/glucocorticoid regulated kinase 31Sgk3<fz>
    MGI:1856038    		fuzzy
    Cdh23
    MGI:1890219    		cadherin related 23 (otocadherin)10Cdh23<v>
    MGI:1856228    		waltzer
  • autosomal recessive nonsyndromic hearing loss 12(DisGeNET, MedGEN)

  • pituitary adenoma 5, multiple types(MedGEN)

  • Usher syndrome type 1D(MedGEN)
    • Hps1
    MGI:2177763    		HPS1, biogenesis of lysosomal organelles complex 3 subunit 119Hps1<ep>
    MGI:1856712    		pale ear
  • Hermansky-Pudlak syndrome 1(DisGeNET, MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal NK cell physiology(MP:0010766)

  • abnormal choroid pigmentation(MP:0005100)

  • abnormal ciliary body pigmentation(MP:0005101)

  • abnormal circulating enzyme level(MP:0001570)

  • abnormal coat/ hair morphology(MP:0000367)
    • more 62 phenotypes
  • abnormal cochlear nerve compound action potential(MP:0004415)

  • abnormal defecation(MP:0003866)

  • abnormal ear pigmentation(MP:0000015)

  • abnormal epidermal layer morphology(MP:0001216)

  • abnormal eye electrophysiology(MP:0005551)

  • abnormal gait(MP:0001406)

  • abnormal hair follicle dermal papilla morphology(MP:0003813)

  • abnormal hair follicle morphology(MP:0000377)

  • abnormal hair texture(MP:0002074)

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

  • abnormal iris pigmentation(MP:0005102)

  • abnormal kidney physiology(MP:0002136)

  • abnormal locomotor behavior(MP:0001392)

  • abnormal lysosome physiology(MP:0003172)

  • abnormal macrophage physiology(MP:0002451)

  • abnormal melanosome morphology(MP:0005075)

  • abnormal outer hair cell stereociliary bundle morphology(MP:0004527)

  • abnormal platelet physiology(MP:0005464)

  • abnormal response to novelty(MP:0003107)

  • abnormal retina morphology(MP:0001325)

  • abnormal stationary movement(MP:0001388)

  • abnormal type II pneumocyte morphology(MP:0002275)

  • abnormal urine homeostasis(MP:0009643)

  • absent pinna reflex(MP:0006358)

  • alveolitis(MP:0010922)

  • circling(MP:0001394)

  • cochlear ganglion degeneration(MP:0002857)

  • cochlear hair cell degeneration(MP:0004362)

  • deafness(MP:0001967)

  • decreased cochlear inner hair cell number(MP:0004396)

  • decreased cochlear outer hair cell number(MP:0004402)

  • decreased ear pigmentation(MP:0011279)

  • decreased eye pigmentation(MP:0005172)

  • decreased grooming behavior(MP:0001442)

  • decreased outer hair cell stereocilia number(MP:0004529)

  • decreased platelet ADP level(MP:0009557)

  • decreased platelet ATP level(MP:0009448)

  • decreased platelet dense granule number(MP:0020432)

  • decreased platelet serotonin level(MP:0004725)

  • decreased tail pigmentation(MP:0011277)

  • decreased vertical activity(MP:0002757)

  • diluted coat color(MP:0000371)

  • early exit from anagen phase(MP:0030925)

  • enlarged alveolar lamellar bodies(MP:0010815)

  • enlarged kidney(MP:0003068)

  • head shaking(MP:0002730)

  • homeostasis/metabolism phenotype(MP:0005376)

  • impaired hearing(MP:0006325)

  • impaired swimming(MP:0001522)

  • increased bleeding time(MP:0005606)

  • increased lysosomal enzyme secretion(MP:0003174)

  • increased susceptibility to age-related hearing loss(MP:0004748)

  • increased susceptibility to atherosclerosis(MP:0005339)

  • increased susceptibility to noise-induced hearing loss(MP:0004597)

  • overexpanded pulmonary alveolus(MP:0001183)

  • pigmentation phenotype(MP:0001186)

  • small hair follicle bulb(MP:0030920)

  • tremors(MP:0000745)

  • vestibular saccular macula degeneration(MP:0004331)

  • vision/eye phenotype(MP:0005391)

  • waved hair(MP:0000410)

  • wavy vibrissae(MP:0001279)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    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.)
    DepositorRIKEN BRC (RIKEN BRC)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    BRC mice in Publications

    No Data