Ank2^tm1Bnt
Targeted Allele Detail

Summary

• Symbol: Ank2^tm1Bnt
• Name: ankyrin 2, brain; targeted mutation 1, Vann Bennett
• MGI ID: MGI:2179754
• Synonyms: ABe22*, AnkyrinB -
• Gene: Ank2 Location: Chr3:126715261-127292999 bp, - strand Genetic Position: Chr3, 56.07 cM
• Alliance: Ank2^tm1Bnt page

Small body size in Ank2^tm1Bnt/Ank2^tm1Bnt mouse compared to wild type

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:52124
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance gene, an in-frame HA epitope and a stop codon were inserted into exon 22, which encodes the spectrin binding domain. Northern blot analysis on RNA derived from homozygous brains demonstrated that no detectable transcript was expressed from this allele. Western blot analysis on homogenates of homozygous brain confirmed that no encoded protein was present. Nonsense-mediated decay leads to a reduction in the 220-kDa and giant Ank2 polypeptides. (J:52124)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ank2 Mutation: 184 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Sinoatrial (SAN) disease (J:163867)

References

• Original: J:52124 Scotland P, et al., Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axons. J Cell Biol. 1998 Nov 30;143(5):1305-15
• All: 35 reference(s)