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Slc6a2tm1.1Mkh
Targeted Allele Detail
Summary
Symbol: Slc6a2tm1.1Mkh
Name: solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2; targeted mutation 1.1, Maureen K Hahn
MGI ID: MGI:5516082
Synonyms: NETP
Gene: Slc6a2  Location: Chr8:93687100-93728295 bp, + strand  Genetic Position: Chr8, 44.99 cM
Alliance: Slc6a2tm1.1Mkh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:200046
Parent Cell Line:  TL1/TL-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 9 was replaced with a modified one in which a G to C point mutation results in the amino acid substitution of proline for alanine at position 457 (A457P), mimicking a mutation found in some postural orthostatic tachycardia syndrome (POTS) patients. A self-excising neomycin resistance cassette removed itself from the final allele. (J:200046)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
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 Slc6a2 Mutation:  34 strains or lines available
References
Original:  J:200046 Shirey-Rice JK, et al., Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndrome. Dis Model Mech. 2013 Jul;6(4):1001-11
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory