Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Tpotee-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:	Tpotee-2J page

Strain of Origin:

B6.NOD-H2g7

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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:	50 strains or lines available

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)