Tmc1^stitch
Chemically induced Allele Detail

Summary

• Symbol: Tmc1^stitch
• Name: transmembrane channel-like gene family 1; stitch
• MGI ID: MGI:5314996
• Synonyms: Tmc1^W554L
• Gene: Tmc1 Location: Chr19:20760822-20931566 bp, - strand Genetic Position: Chr19, 13.98 cM, cytoband B
• Alliance: Tmc1^stitch page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU induced a G to T mutation at position 1661 resulting in a tryptophan to leucine substitution at amino acid 554 in exon 15 and is predicted to alter protein folding. Protein expression is reduced in the type III fibrocytes basal to mid cochlear region but increased in the apical region in homozygous mice. (J:181985)
• Inheritance: Recessive

Disease models

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 Tmc1 Mutation: 59 strains or lines available

References

• Original: J:181985 Manji SS, et al., Identification of three novel hearing loss mouse strains with mutations in the tmc1 gene. Am J Pathol. 2012 Apr;180(4):1560-9
• All: 1 reference(s)