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Chmp4btm1.1Alsh
Targeted Allele Detail
Summary
Symbol: Chmp4btm1.1Alsh
Name: charged multivesicular body protein 4B; targeted mutation 1.1, Alan Shiels
MGI ID: MGI:7346081
Synonyms: Chmp4bD129V
Gene: Chmp4b  Location: Chr2:154498949-154536703 bp, + strand  Genetic Position: Chr2, 76.79 cM, cytoband H2
Alliance: Chmp4btm1.1Alsh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:282278
Parent Cell Line:  SCC10 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThe targeting vector replaced exon 3 with a modified one with the mutation (c.386A to T) responsible to the amino acid substitution of aspartic acid with valine at position 129 (D129V). Cre-mediated recombination removed the selection cassette inserted downstream of exon 4. (J:282278)
Expression
In Mice Carrying this Mutation: 12 assay results
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 Chmp4b Mutation:  39 strains or lines available
References
Original:  J:282278 Zhou Y, et al., A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation. Differentiation. 2019 Sep - Oct;109:16-27
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
05/07/2024
MGI 6.23
The Jackson Laboratory