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Tpotee-2J
Spontaneous Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  B6.NOD-H2g7
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  33 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/16/2021
MGI 6.17
The Jackson Laboratory