Ank2^tm2.1Bnt
Targeted Allele Detail

Summary

• Symbol: Ank2^tm2.1Bnt
• Name: ankyrin 2, brain; targeted mutation 2.1, Vann Bennett
• MGI ID: MGI:5646021
• Synonyms: Ank2^L1622I, Ank2^{tm2.1(L1622I)Bnt}
• Gene: Ank2 Location: Chr3:126715261-127292999 bp, - strand Genetic Position: Chr3, 56.07 cM
• Alliance: Ank2^tm2.1Bnt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:222913
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An L1622I (CTG to ATC) mutation in exon 19 and a loxP site flanked neomycin resistance gene cassette were knocked into the gene. In humans, the mutation is involved with the setting of hereditary cardiac arrhythmia. Cre-mediated recombination removed the neo cassette. Western blot analysis confirmed reduced protein expression in the fat, liver, skeletal muscle, pancreatic beta cells, mouse embryonic fibroblasts and heart but not the brain. (J:222913)

Expression

In Structures Affected by this Mutation:

3 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 Ank2 Mutation: 185 strains or lines available

References

• Original: J:222913 Lorenzo DN, et al., Ankyrin-B metabolic syndrome combines age-dependent adiposity with pancreatic beta cell insufficiency. J Clin Invest. 2015 Aug 3;125(8):3087-3102
• All: 1 reference(s)