Pmp22<tm1Ueli> Targeted Allele Detail MGI Mouse (MGI:2447704)

Pmp22^tm1Ueli
Targeted Allele Detail

Summary

Symbol:	Pmp22^tm1Ueli
Name:	peripheral myelin protein 22; targeted mutation 1, Ueli Suter
MGI ID:	MGI:2447704
Synonyms:	Pmp22-, Pmp22⁰, Pmp22^ko
Gene:	Pmp22 Location: Chr11:63019808-63050373 bp, + strand Genetic Position: Chr11, 38.99 cM
Alliance:	Pmp22^tm1Ueli 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 details: The 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

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

Disease models

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:	33 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24