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Pmp22tm1Ueli
Targeted Allele Detail
Summary
Symbol: Pmp22tm1Ueli
Name: peripheral myelin protein 22; targeted mutation 1, Ueli Suter
MGI ID: MGI:2447704
Synonyms: Pmp22-, Pmp220, Pmp22ko
Gene: Pmp22  Location: Chr11:63019808-63050373 bp, + strand  Genetic Position: Chr11, 38.99 cM
Alliance: Pmp22tm1Ueli page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:29517
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe gene was disrupted by insertion of a neo-derived cassette into exon 2 at amino acid 8. Absence of gene expression was confirmed by Western blot analysis of sciatic nerve homogenates from ten-week old homozygous mutant animals using antibodies directed against residues 117-132 of the protein. (J:29517)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(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 Pmp22 Mutation:  32 strains or lines available
References
Original:  J:29517 Adlkofer K, et al., Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet. 1995 Nov;11(3):274-80
All:  21 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
03/19/2024
MGI 6.23
The Jackson Laboratory