Trpc3^Mwk
Chemically induced Allele Detail

Summary

• Symbol: Trpc3^Mwk
• Name: transient receptor potential cation channel, subfamily C, member 3; moonwalker
• MGI ID: MGI:3689326
• Synonyms: Bhv7
• Gene: Trpc3 Location: Chr3:36674626-36744276 bp, - strand Genetic Position: Chr3, 17.93 cM, cytoband B
• Alliance: Trpc3^Mwk page

Progressive Purkinje neuron loss in the Trpc3^Mwk/Trpc3⁺ cerebellum

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU induced mutation is a point mutation in exon 7: an A-to-G nucleotide change at position 1903. This causes a threonine-to-alanine amino acid change at residue 635 in the highly conserved S4/S5 linker region. (J:148340)
• Inheritance: Dominant

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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: 2 strains available Cell Lines: 0 lines available
• Carrying any Trpc3 Mutation: 56 strains or lines available

References

• Original: J:148340 Becker EB, et al., A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A. 2009 Apr 21;106(16):6706-11
• All: 7 reference(s)