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Pithd1tm1Ohi
Targeted Allele Detail
Summary
Symbol: Pithd1tm1Ohi
Name: PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1; targeted mutation 1, Izumi Ohigashi
MGI ID: MGI:6416147
Synonyms: PITHD1-, PITHD1tm1(tdTomato)
Gene: Pithd1  Location: Chr4:135702913-135714555 bp, - strand  Genetic Position: Chr4, 68.34 cM
Alliance: Pithd1tm1Ohi page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:285040
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  C57BL/6NJcl
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA cassette containing a tdTomato reporter followed by a floxed pgk-neo gene in inverse orientation was inserted in-frame just after the start codon in exon 1 replacing part of exon 1. Quantitative RT-PCR and immunoblot analysis confirmed the absence of expression of wild-type RNA and protein in the thymus and testis of homozygous mice. Reporter expression was detected in the cortical region of the thymus in heterozygous mice. (J:285040)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
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 Pithd1 Mutation:  15 strains or lines available
Notes
ES cell = HK3i
References
Original:  J:285040 Kondo H, et al., PITHD1 is a proteasome-interacting protein essential for male fertilization. J Biol Chem. 2020 Feb 7;295(6):1658-1672
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
11/12/2024
MGI 6.24
The Jackson Laboratory