Itga6^tm1Egl
Targeted Allele Detail

Summary

• Symbol: Itga6^tm1Egl
• Name: integrin alpha 6; targeted mutation 1, Elisabeth Georges-Labouesse
• MGI ID: MGI:1857793
• Synonyms: alpha6^-, Itga6^tmZP149
• Gene: Itga6 Location: Chr2:71617236-71688761 bp, + strand Genetic Position: Chr2, 42.79 cM
• Alliance: Itga6^tm1Egl page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Mice Carrying this Mutation:	11 assay results
In Structures Affected by this Mutation:	5 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 Itga6 Mutation: 211 strains or lines available

References

• 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)