Strain Data Sheet

RBRC04709

Strain Information

Image
BRC No.RBRC04709
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameFVB.Cg-Atp2b2<tm1Ges>
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped Dr. Gary Shull, University of Cincinnati College of Medicine. Deposited by Dr. Thomas Knoepfel, RIKEN Brain Science Institute.
Strain descriptionPMCA2 knockout mouse. Deficient in the plasma membrane Ca2+ ATPase variant 2, PMCA2. Homozygous mutant mice are viable but show motor deficits, deficits in hearing and disturbance of the sense of balance.
Colony maintenanceHeterozygote x Wild-type
References
Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2.
Kozel P J, Friedman R A, Erway L C, Yamoah E N, Liu L H, Riddle T, Duffy J J, Doetschman T, Miller M L, Cardell E L, Shull G E
J. Biol. Chem., 273, 18693-18696 (1998). 9668038

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Atp2b2ATPase, Ca++ transporting, plasma membrane 26Atp2b2
  • autosomal recessive nonsyndromic hearing loss 12(MedGEN)
    • neoneomycin resistance gene (E. coli)6mouse phosphoglycerate kinase promoter (PGK promoter)
  • autosomal recessive nonsyndromic hearing loss 12(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal auditory brainstem response(MP:0004738)

  • abnormal auditory cortex morphology(MP:0004631)

  • abnormal calcium ion homeostasis(MP:0004231)

  • abnormal cerebellar granule cell morphology(MP:0004098)

  • abnormal cerebellum morphology(MP:0000849)
    • more 30 phenotypes
  • abnormal cerebral cortex morphology(MP:0000788)

  • abnormal cochlear hair cell physiology(MP:0004432)

  • abnormal cochlear nerve morphology(MP:0004716)

  • abnormal gait(MP:0001406)

  • abnormal hair cell mechanoelectric transduction(MP:0004431)

  • abnormal inner ear morphology(MP:0000026)

  • abnormal inner ear vestibule morphology(MP:0000034)

  • abnormal organ of Corti morphology(MP:0000042)

  • abnormal reflex(MP:0001961)

  • abnormal vestibular hair cell physiology(MP:0004438)

  • absent cochlear hair cells(MP:0004405)

  • absent distortion product otoacoustic emissions(MP:0004737)

  • absent organ of Corti supporting cells(MP:0004301)

  • absent otoliths(MP:0002978)

  • absent pillar cells(MP:0004312)

  • absent tunnel of Corti(MP:0003151)

  • ataxia(MP:0001393)

  • deafness(MP:0001967)

  • decreased body weight(MP:0001262)

  • decreased cochlear hair cell number(MP:0004408)

  • decreased organ of Corti supporting cell number(MP:0004497)

  • impaired balance(MP:0001525)

  • impaired hearing(MP:0006325)

  • impaired righting response(MP:0001523)

  • increased Purkinje cell number(MP:0000879)

  • increased or absent threshold for auditory brainstem response(MP:0011967)

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

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

  • sensorineural hearing loss(MP:0004740)

  • thin cerebellar molecular layer(MP:0000890)
    • Detailed phenotype data

    Ordering Information

    Donor DNAmouse PMCA2 genomic DNA, E. coli neomycin resistance gene, mouse phosphoglycerate kinase promoter (PGK promoter)
    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.)
    DepositorThomas Knöepfel (RIKEN)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovery and QC required prior to distribution
    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)
    Contact Information
    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data