Itga7^tm1Umr
Targeted Allele Detail

Summary

• Symbol: Itga7^tm1Umr
• Name: integrin alpha 7; targeted mutation 1, Ulrike Mayer
• MGI ID: MGI:2153005
• Synonyms: alpha7-
• Gene: Itga7 Location: Chr10:128769645-128794155 bp, + strand Genetic Position: Chr10, 77.2 cM
• Alliance: Itga7^tm1Umr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:43840
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced a 1kb genomic fragment containing exon 1 sequences encoding the signal sequence and first 107bp of the mature protein. Mutant transcripts were detected by Northern blot and RT-PCR analysis in muscle derived from homozygous mice, but these transcripts do not contain sequences associated with exon 1. FACS analysis on myoblasts isolated from homozygous mice demonstrated an absence of the protein and immunohistochemistry on frozen muscle sections demonstrated that no protein was detectable. (J:43840)

Disease models

Expression

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 Itga7 Mutation: 35 strains or lines available

References

• Original: J:43840 Mayer U, et al., Absence of integrin alpha 7 causes a novel form of muscular dystrophy. Nat Genet. 1997 Nov;17(3):318-23
• All: 14 reference(s)