Sox4^M91Ark
Chemically induced Allele Detail

Summary

• Symbol: Sox4^M91Ark
• Name: SRY (sex determining region Y)-box 4; mutation 91, Ruth M Arkell
• MGI ID: MGI:3819793
• Synonyms: line 91, M91B, MUD91, Sox4^S70P
• Gene: Sox4 Location: Chr13:29132902-29137682 bp, - strand Genetic Position: Chr13, 12.87 cM, cytoband A3-A5
• Alliance: Sox4^M91Ark page

Mutation origin

• Strain of Origin: mixed

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation was identified in an ENU mutagenesis screen focused on the Del(13)39H deletion interval. A T-to-C transition at nucleotide 869 (RefSeq accession no. NM_009238) generates a Ser70Pro missense mutation. This transition introduces a proline residue into the first alpha-helix of the HMG box of the protein product. Allelic complementation suggests this is a functionally null allele. (J:101156)
• Inheritance: Semidominant

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Sox4 Mutation: 23 strains or lines available

Notes

This allele was induced by ENU treatment of a male mouse homozygous for Foxq1^sa on a mixed genetic background (mostly 101 and C3H, but derived from a linkage testing stock also homozygous for Wnt3a^vt (origin: C57BR) and Bloc1s5^mu (origin: t-allele stock)).

References

• Original: J:101156 Bogani D, et al., Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci U S A. 2005 Aug 30;102(35):12477-82
• All: 2 reference(s)