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Pot1btm1.1Schg
Targeted Allele Detail
Summary
Symbol: Pot1btm1.1Schg
Name: protection of telomeres 1B; targeted mutation 1.1, Sandy Chang
MGI ID: MGI:3831881
Synonyms: Pot1bdelta
Gene: Pot1b  Location: Chr17:55958951-56019628 bp, - strand  Genetic Position: Chr17, 28.93 cM, cytoband D
Alliance: Pot1btm1.1Schg page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:144553
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsCre mediated recombination of Pot1btm1Schg removed exons 3 and 4. RT-PCR confirmed the absence of mRNA transcripts in homozygous MEFs. (J:144553)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 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 Pot1b Mutation:  38 strains or lines available
References
Original:  J:144553 He H, et al., Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita. Mol Cell Biol. 2009 Jan;29(1):229-40
All:  5 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
04/16/2024
MGI 6.23
The Jackson Laboratory