Ank^tm1.1Ejr
Targeted Allele Detail

Summary

• Symbol: Ank^tm1.1Ejr
• Name: progressive ankylosis; targeted mutation 1.1, Ernst J Reichenberger
• MGI ID: MGI:4889192
• Synonyms: Ank^KI
• Gene: Ank Location: Chr15:27466763-27594995 bp, + strand Genetic Position: Chr15, 10.23 cM
• Alliance: Ank^tm1.1Ejr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:168526
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A three base deletion of TTC at nucleotide positions 1130-1132 in exon 9 was created. This causes the deletion of phenylalanine at amino acid residue 377. At the same time, a floxed PGK neomycin selection cassette was inserted in intron 8 608 bp 5' of the TTC deletion. Founder mice were crossed to cre expressing mice in order to excise the selection cassette. (J:168526)

Disease models

Expression

In Structures Affected by this Mutation:

13 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 Ank Mutation: 33 strains or lines available

References

• Original: J:168526 Chen IP, et al., Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res. 2009 Jul;24(7):1206-15
• All: 5 reference(s)