Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol: Ank2tm1Bnt 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: Ank2tm1Bnt page

Small body size in Ank2tm1Bnt/Ank2tm1Bnt mouse compared to wild type Show the 5 phenotype image(s) involving this allele.

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

9 anatomical structure(s)

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:	185 strains or lines available

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)