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

Symbol:	Slc6a5trsl
Name:	solute carrier family 6 (neurotransmitter transporter, glycine), member 5; tremor with stiff legged walk
MGI ID:	MGI:5796925
Gene:	Slc6a5  Location: Chr7:49559894-49613604 bp, + strand  Genetic Position: Chr7, 31.71 cM, cytoband B3
Alliance:	Slc6a5trsl page

Strain of Origin:

C57BL/6J

Allele Type:    Chemically induced (ENU) (Hypomorph) Mutation:    Single point mutation   Mutation details: A single G-to-A point transition at chromosome 7 position 49,917,609 (GRCm38/mm10) causes the codon change of atG to atA resulting in the change of methionine to isoleucine in a transmembrane domain, p.M278I in NP_001139485.1 and p.M2701I in NP_683733.2. (J:222308, J:235637) Inheritance:    Recessive

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Slc6a5 Mutation:	59 strains or lines available

Original:	J:235637 Harris BS, et al., A Viable Mouse Model of Hyperekplexia 3. MGI Direct Data Submission. 2016;
All:	2 reference(s)