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Vcptm1Itl
Targeted Allele Detail
Nomenclature
Symbol: Vcptm1Itl
Name: valosin containing protein; targeted mutation 1, inGenious Targeting Laboratory
MGI ID: MGI:4849540
Synonyms: VCPR155H, Vcptm1Igl
Gene: Vcp  Location: Chr4:42979964-43000507 bp, - strand  Genetic Position: Chr4, 22.95 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:166230
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsNucleotide substitution results in the amino acid substitution of histidine for arginine at position 155 (R155H). A floxed and FRT-flanked neo cassette was inserted downstream of exon 5. (J:166230)
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: 11 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Vcp Mutation:  38 strains or lines available
References
Original:  J:166230 Badadani M, et al., VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One. 2010;5(10)
All:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/08/2019
MGI 6.13
The Jackson Laboratory