Slc6a5^trsl
Chemically induced Allele Detail

Summary

• Symbol: Slc6a5^trsl
• 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: Slc6a5^trsl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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

References

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