B6;129(Cg)-Slc12a5^tm1.1Msa/Oulu

Status	Available to order
EMMA ID	EM:14909
Citation information	RRID:IMSR_EM:14909 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6;129(Cg)-Slc12a5^tm1.1Msa/Oulu
Alternative name	K2a
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Slc12a5^tm1.1Msa
Gene/Transgene symbol	Slc12a5

Information from provider

Provider	Matti Airaksinen
Provider affiliation	Univ Helsinki
Genetic information	This is a null mutant line of the Slc12a5 a-isoform (alias KCC2a). The generation of the strain is explained in Dubois et al., 2018 (doi:10.1002/cne.23510). Briefly, a KCC2a-deficient mouse line was generated by replacing exon 1a (including the start codon) with a floxed neomycin resistance (neo) cassette (PL452) using recombination methods. Gene targeting was performed in R1 ES cells, and germline chimeras were produced by morula aggregation. Mice were crossed with a cre/loxP-deleter mouse line (Tang et al., 2002) to remove the neo cassette. Heterozygous KCC2a-KO mice were backcrossed to C57BL/6JHsd (Harlan) for more than five generations and intercrossed to obtain KCC2a-KO mice. MGI allele: Slc12a5^tm1.1Msa, http://www.informatics.jax.org/allele/MGI:5629854.
Phenotypic information	Homozygous: A transient phenotype is described in the reference (doi: 10.1523/ENEURO.0264-18.2018). Briefly, KCC2a-deficient pups at P0 transiently express an abnormally low breathing rate and a high occurrence of apnea. In contrast, adult KCC2a-KO mice breed normally and appear indistinguishable from their wild-type littermates. However, no comprehensive phenotypic analysis (e.g. behavior, blood tests, etc.) has been done. Heterozygous: none
Breeding history	The mutant allele was generated in R1 ES cells. The background is mixed, pups can be black or brown.
References	Distribution of neuronal KCC2a and KCC2b isoforms in mouse CNS.;Markkanen Marika, Karhunen Tuula, Llano Olaya, Ludwig Anastasia, Rivera Claudio, Uvarov Pavel, Airaksinen Matti S, ;2014;The Journal of comparative neurology;522;1897-914; 24639001 Role of the K⁺-Cl^- Cotransporter KCC2a Isoform in Mammalian Respiration at Birth.;Dubois Christophe J, Cardoit Laura, Schwarz Veronika, Markkanen Marika, Airaksinen Matti S, Uvarov Pavel, Simmers John, Thoby-Brisson Muriel, ;2018;eNeuro;5;; 30406192
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	University of Oulu, Oulu, Finland
Animals used for archiving	heterozygous mixed 129, C57BL/6 males, wild-type C57BL/6J females
Stage of embryos	2-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Malignant migrating focal seizures of infancy / Orphanet_293181

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

Distribution of neuronal KCC2a and KCC2b isoforms in mouse CNS.;Markkanen Marika, Karhunen Tuula, Llano Olaya, Ludwig Anastasia, Rivera Claudio, Uvarov Pavel, Airaksinen Matti S, ;2014;The Journal of comparative neurology;522;1897-914; 24639001
Role of the K⁺-Cl^- Cotransporter KCC2a Isoform in Mammalian Respiration at Birth.;Dubois Christophe J, Cardoit Laura, Schwarz Veronika, Markkanen Marika, Airaksinen Matti S, Uvarov Pavel, Simmers John, Thoby-Brisson Muriel, ;2018;eNeuro;5;; 30406192

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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B6;129(Cg)-Slc12a5tm1.1Msa/Oulu