Ano5^tm1Lrk
Targeted Allele Detail

Summary

• Symbol: Ano5^tm1Lrk
• Name: anoctamin 5; targeted mutation 1, Louise R Rodino-Klapac
• MGI ID: MGI:6149153
• Synonyms: Ano5^-
• Gene: Ano5 Location: Chr7:51160777-51248457 bp, + strand Genetic Position: Chr7, 32.76 cM
• Alliance: Ano5^tm1Lrk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:235810
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: A knockout-first allele was created using the Ano5 vector. The following elements were inserted into the locus: an FRT site, an exogenous intron, an IRES, the lacZ reporter gene, SV40 polyA features, a loxP site, a neomycin resistance gene cassette, a second FRT site and a second loxP site into intron 8. A third loxP site was inserted into intron 9. RT-PCR confirmed the loss of transcription from exon 9 onwards. qRT-PCR showed overall reduction of 80% in transcription from this allele. Western blots confirmed the lack of protein expression from this allele. (J:235810)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Ano5 Mutation: 67 strains or lines available

Notes

Vector derived from PG00097_Z_1_G0 KOMP cell line.

References

• Original: J:235810 Griffin DA, et al., Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy. Hum Mol Genet. 2016 May 15;25(10):1900-1911
• All: 3 reference(s)