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Ank2tm2.1Bnt
Targeted Allele Detail
Nomenclature
Symbol: Ank2tm2.1Bnt
Name: ankyrin 2, brain; targeted mutation 2.1, Vann Bennett
MGI ID: MGI:5646021
Synonyms: Ank2L1622I, Ank2tm2.1(L1622I)Bnt
Gene: Ank2  Location: Chr3:126921612-127499350 bp, - strand  Genetic Position: Chr3, 56.07 cM
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 detailsAn L1622I (CTG to ATC) mutation in exon 19 and loxP-flanked neomycin cassette were knocked into the gene. In humans, the mutation is involved with the setting of hereditary cardiac arrhythmia. Cre-mediated recombination removed the selection 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structures
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:  17 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory