Strain Data Sheet

RBRC05431

Strain Information

Image
BRC No.RBRC05431
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameC57BL/6-Ano5<tm1Itak>
Former Common name
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Hiroshi Inoue, Satoshi Tsutsumi, Mitsuo Itakura, Institute for Genome Research, The University of Tokushima and Kuniko Mizuta, Hiroshima University Graduate School of Biomedical Sciences. A neomycin selection cassette was transferred into C57BL/6 derived ES cells to replace exon 1 of Ano5 gene.
Strain descriptionAno5, anoctamin 5 (Gdd1) knockout mice. The first exon of Ano5 gene was replaced with a neomycin selection cassette. Homozygous mutant mice show no obvious abnormality.
Colony maintenance
References
Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1.
Tsutsumi S, Kamata N, Maruoka Y, Ando M, Tezuka O, Enomoto S, Omura K, Nagayama M, Kudo E, Moritani M, Yamaoka T, Itakura M
J. Bone Miner. Res., 18, 413-418 (2003). 12619924

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
Tsutsumi S, Kamata N, Vokes T J, Maruoka Y, Nakakuki K, Enomoto S, Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M
Am. J. Hum. Genet., 74, 1255-1261 (2004). 15124103

Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1.
Tsutsumi S, Inoue H, Sakamoto Y, Mizuta K, Kamata N, Itakura M
Biochem. Biophys. Res. Commun., 331, 1099-1106 (2005). 15882990

Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.
Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, Noji S, Kamata N, Itakura M
Biochem. Biophys. Res. Commun., 357, 126-132 (2007). 17418107

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
Bolduc V, Marlow G, Boycott K M, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen W H, Mahjneh I, de Visser M, Bashir R, Brais B
Am. J. Hum. Genet., 86, 213-221 (2010). 20096397

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Ano5
MGI:3576659		anoctamin 57Ano5 <tm1Itak> targeted mutation 1, Mitsuo Itakura
  • autosomal recessive limb-girdle muscular dystrophy type 2L(DisGeNET, MedGEN)

  • gnathodiaphyseal dysplasia(DisGeNET, MedGEN)

  • Miyoshi muscular dystrophy 3(MedGEN)
    • neo neomycin resistance gene (E. coli)7 mouse phosphoglycerate kinase promoter (PGK promoter)

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • obsolete no phenotypic analysis(MP:0003012)
    • Detailed phenotype data

    Ordering Information

    Donor DNAmouse phosphoglycerate kinase promoter (PGK promoter), E. coli. neo, mouse GDD1 (ANO5) genomic DNA
    Research applicationMouse Models for Human Disease
    Specific Term and ConditionsThe availability of the BIOLOGICAL RESOURCE is limited to a RECIPIENT of a not-for profit institution for a not-for-profit research. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorMitsuo Itakura (Tokushima University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    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)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    Xu J, El Refaey M, Xu L, Zhao L, Gao Y, Floyd K, Karaze T, Janssen PM, Han R.
    Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy.
    Skelet Muscle 5 43(2015) 26693275