Foxc1^ch
Spontaneous Allele Detail

Summary

• Symbol: Foxc1^ch
• Name: forkhead box C1; congenital hydrocephalus
• MGI ID: MGI:1856705
• Synonyms: ch, mf1^ch
• Gene: Foxc1 Location: Chr13:31990629-31994618 bp, + strand Genetic Position: Chr13, 13.52 cM
• Alliance: Foxc1^ch page

Foxc1^ch/Foxc1^ch

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

Mutation origin

• Strain of Origin: CBA x STOCK Tyr^c f

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A transition point mutation at coding nucleotide 367 altered a C to a T in the coding region. This results in a stop codon in place of glutamine codon 123 (p.Q123*) in the sequences encoding the third helix of the WH domain. The authors predict that a truncated protein would be generated lacking DNA binding activity. (J:48079)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	90 assay results
In Structures Affected by this Mutation:	77 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 Foxc1 Mutation: 29 strains or lines available

References

• Original: J:75733 Gruneberg H, Congenital hydrocephalus in the mouse, a case of spurious pleiotropism. J Genet. 1943;45(1):1-21
• All: 22 reference(s)