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Slc12a6em1Dlp
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Slc12a6em1Dlp
Name: solute carrier family 12, member 6; endonuclease-mediated mutation 1, Eric Delpire
MGI ID: MGI:6157844
Synonyms: KCC3T991A
Gene: Slc12a6  Location: Chr2:112266042-112363163 bp, + strand  Genetic Position: Chr2, 56.99 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Constitutively active)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR/Cas9 technology was used to introduce an alanine for threonine substitution at codon 991 (T991A) in exon 22. The T991A mutation has been identified in a patient with severe peripheral neuropathy, abolishes Thr991 phosphorylation, is a gain of function mutation and results in constitutive activity. This line corresponds to line #31. (J:259728)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Slc12a6 Mutation:  81 strains or lines available
References
Original:  J:259728 Kahle KT, et al., Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Sci Signal. 2016 Aug 2;9(439):ra77
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory