Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:24974
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: 4.7 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)

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

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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:	556 strains or lines available

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)