Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Slc6a6tm1Jaz
Name:	solute carrier family 6 (neurotransmitter transporter, taurine), member 6; targeted mutation 1, Junichi Azuma
MGI ID:	MGI:3793961
Synonyms:	taut-
Gene:	Slc6a6  Location: Chr6:91661031-91736044 bp, + strand  Genetic Position: Chr6, 40.73 cM
Alliance:	Slc6a6tm1Jaz page

Germline Transmission:	Earliest citation of germline transmission: J:135159
Parent Cell Line:	D3 (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 2 - 4 were replaced with a neo-cassette via homologous recombination. RT-PCR analysis detected only a truncated transcript including exon 5 but missing exons 2 - 4 in homozygous hearts. Taurine uptake activity was severely diminished in cultured cardiomyocytes from homozygous mice. (J:135159)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

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 Slc6a6 Mutation:	319 strains or lines available

Original:	J:135159 Ito T, et al., Taurine depletion caused by knocking out the taurine transporter gene leads to cardiomyopathy with cardiac atrophy. J Mol Cell Cardiol. 2008 May;44(5):927-37
All:	6 reference(s)