Tpo^tee-2J
Spontaneous Allele Detail

Summary

• Symbol: Tpo^tee-2J
• Name: thyroid peroxidase; teeny 2 Jackson
• MGI ID: MGI:3721538
• Gene: Tpo Location: Chr12:30104658-30182623 bp, - strand Genetic Position: Chr12, 13.0 cM, cytoband C
• Alliance: Tpo^tee-2J page

Mutation origin

• Strain of Origin: B6.NOD-H2^g7

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: This spontaneous 64 base pair deletion includes the last 35 base pairs of exon 5 and the first 29 base pairs of intron 5, which includes the 5 prime splice donor site, and yields no normal transcript and two abnormal transcripts: a 740 bp transcript skipping only exon 5, which is predicted to causes a frame shift resulting in 12 incorrect amino acid substitutions beginning at residue 111 then a premature stop codon; and a 588 bp transcript skipping exons 4 and 5, which is predicted to delete 95 amino acids, residues 61-155. (J:202956)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 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 Tpo Mutation: 52 strains or lines available

References

• Original: J:202956 Johnson KR, et al., Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene. J Assoc Res Otolaryngol. 2014 Feb;15(1):45-55
• All: 1 reference(s)