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

Symbol:	Itga6tm1Egl
Name:	integrin alpha 6; targeted mutation 1, Elisabeth Georges-Labouesse
MGI ID:	MGI:1857793
Synonyms:	alpha6-, Itga6tmZP149
Gene:	Itga6  Location: Chr2:71617236-71688761 bp, + strand  Genetic Position: Chr2, 42.79 cM
Alliance:	Itga6tm1Egl page

Germline Transmission:	Earliest citation of germline transmission: J:33712
Parent Cell Line:	H1 (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin cassette replaced a genomic fragment that contains three coding exons of the gene corresponding to amino acids 62-194. Northern analysis of total RNA extracted from homozygous tissue showed the absence of full length message, and a presence of a truncated mRNA that should not yield a functional protein. Immunohistochemical analysis did not detect any protein produced from this allele in tissue sections derived from from homozygous embryos. (J:33712)

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

In Mice Carrying this Mutation:	11 assay results
In Structures Affected by this Mutation:	5 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 Itga6 Mutation:	209 strains or lines available

Original:	J:33712 Georges-Labouesse E, et al., Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice. Nat Genet. 1996 Jul;13(3):370-3
All:	14 reference(s)