B6JHsd.129(Cg)-Slc12a5tm1Hsav/Oulu

Status

Available to order

EMMA IDEM:15020
Citation informationRRID:IMSR_EM:15020 

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International strain nameB6JHsd.129(Cg)-Slc12a5tm1Hsav/Oulu
Alternative nameKCC2hypo
Strain typeTargeted Mutant Strains : Other targeted
Allele/Transgene symbolSlc12a5tm1Hsav
Gene/Transgene symbolSlc12a5

Information from provider

ProviderMatti Airaksinen
Provider affiliationUniv. Helsinki
Genetic informationIn this KCC2 hypomorphic allele, a neo cassette lies within intron 3 in the opposite orientation relative to the KCC2 (alias Slc12a5) gene.
Phenotypic informationHomozygous:
Reduced expression of KCC2 protein (about 30% of normal KCC2 levels). Ref. Tornberg et al. 2005; doi:10.1111/j.1460-9568.2005.03959.x

Heterozygous:
Not tested. doi:10.1111/j.1460-9568.2005.03959.x
Breeding historyThe mutant allele was generated in R1 ES cells. Mice heterozygous for the hypomorphic allele (KCC2 wt/hy) were backcrossed to wild-type C57BL/6JOlaHsd for at least five generations. The background is mixed, pups can be black or brown.
References
  • Construction of gene-targeting vectors: a rapid Mu in vitro DNA transposition-based strategy generating null, potentially hypomorphic, and conditional alleles.;Vilen H, Eerikäinen S, Tornberg J, Airaksinen M S, Savilahti H, ;2001;Transgenic research;10;69-80; 11252384
  • Behavioural phenotypes of hypomorphic KCC2-deficient mice.;Tornberg Janne, Voikar Vootele, Savilahti Harri, Rauvala Heikki, Airaksinen Matti S, ;2005;The European journal of neuroscience;21;1327-37; 15813942
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreUniversity of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • abnormal placenta morphology / IMPC
  • impaired glucose tolerance / IMPC
  • hemorrhage / IMPC
  • enlarged spleen / IMPC
  • abnormal stomach morphology / IMPC
  • preweaning lethality, complete penetrance / IMPC
  • decreased bone mineral content / IMPC
  • abnormal jejunum morphology / IMPC
  • small spleen / IMPC
  • embryonic growth retardation / IMPC
  • abnormal skin morphology / IMPC
  • abnormal duodenum morphology / IMPC
  • microphthalmia / IMPC
  • abnormal blood vessel morphology / IMPC
  • abnormal colon morphology / IMPC
  • edema / IMPC
  • abnormal spleen morphology / IMPC
  • abnormal placenta vasculature / IMPC

Literature references

  • Construction of gene-targeting vectors: a rapid Mu in vitro DNA transposition-based strategy generating null, potentially hypomorphic, and conditional alleles.;Vilen H, Eerikäinen S, Tornberg J, Airaksinen M S, Savilahti H, ;2001;Transgenic research;10;69-80; 11252384
  • Behavioural phenotypes of hypomorphic KCC2-deficient mice.;Tornberg Janne, Voikar Vootele, Savilahti Harri, Rauvala Heikki, Airaksinen Matti S, ;2005;The European journal of neuroscience;21;1327-37; 15813942

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