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Dsttm1Efu
Targeted Allele Detail
Summary
Symbol: Dsttm1Efu
Name: dystonin; targeted mutation 1, Elaine Fuchs
MGI ID: MGI:2429314
Synonyms: BPAG1 null
Gene: Dst  Location: Chr1:33947306-34347742 bp, + strand  Genetic Position: Chr1, 12.91 cM
Alliance: Dsttm1Efu page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:24974
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details4.7 kb of sequence encompassing the start codon, exons 1 through 3, and a portion of exon 4 was replaced by a neomycin selection cassette inserted by homologous recombination. Northern and Western blot analysis of skin tissue obtained from homozygous mutant mice indicated an absence of transcript and protein. (J:24974)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 2 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 Dst Mutation:  557 strains or lines available
References
Original:  J:24974 Guo L, et al., Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell. 1995 Apr 21;81(2):233-43
All:  6 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
12/10/2024
MGI 6.24
The Jackson Laboratory