In(7Oca2;7Sox6)100H
Radiation induced Allele Detail

Summary

• Symbol: In(7Oca2;7Sox6)100H
• Name: inversion, Chr 7, Harwell 100
• MGI ID: MGI:2681117
• Synonyms: p^100H
• Gene: In(7Oca2;7Sox6)100H Location: unknown Genetic Position: Chr7, Syntenic

Blood and liver phenotype of wild type and In(7Oca2;7Sox6)100H/In(7Oca2;7Sox6)100H mice

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

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Radiation induced
• Mutation: Inversion
• In(7Oca2;7Sox6)100H involves 997 genes/genome features (Gm10172, Gm10160, Gm15135 ...) View all
• Mutation details: This chromosome 7 inversion was induced by irradiation with 3 + 3 Gy. The proximal and distal breakpoints were localized to intron 23 of the Oca2 (p) locus and to a 3' intron of the Sox6 locus, respectively. Transcript was produced at both of the readjoined breakpoints. The transcript arising from the proximal site consisted of Oca2 exons 1 through 23 and Sox6 3' exons and is affected by a frameshift mutation that putatively leads to the substitution of the 27 residues encoded by Oca2 exon 24, which make up the last transmembrane domain, with 78 residues encoded by the frameshifted Sox6 sequence. The transcript produced at the distal breakpoint consisted of 5' Sox6 sequence adjoined to exon 24 of the Oca2 locus. A nonsense mutation was generated 11 codons downstream of the breakpoint precluding the translation of the HMG DNA binding domain. (J:61682)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	171 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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 In(7Oca2;7Sox6)100H Mutation: 0 strains or lines available

References

• Original: J:61682 Hagiwara N, et al., Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4180-5
• All: 6 reference(s)