Tbc1d20^bs
Spontaneous Allele Detail

Summary

• Symbol: Tbc1d20^bs
• Name: TBC1 domain family, member 20; blind-sterile
• MGI ID: MGI:1856684
• Gene: Tbc1d20 Location: Chr2:152135748-152155916 bp, + strand Genetic Position: Chr2, 74.83 cM, cytoband H1
• Alliance: Tbc1d20^bs page

Tbc1d20^bs/Tbc1d20^bs

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: AKR/J

Mutation description

• Allele Type: Spontaneous
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: Positional cloning identified a c.691T>A substitution and c.692_703del deletion (in-frame p.Arg232_Val235 deletion) in exon 6, which togther result in p.Phe231_Val235delinsMet. Functional analysis indicates this is a loss of function mutation. (J:206668, J:222308)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 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 Tbc1d20 Mutation: 20 strains or lines available

References

• Original: J:7104 Varnum DS, Blind-sterile: a new mutation on chromosome 2 of the house mouse. J Hered. 1983 May-Jun;74(3):206-7
• All: 10 reference(s)